THE CHILD WITH ENDOCRINE/METABOLIC DYSFUNCTION

THYROID GLAND DISORDERS

1. Congenital Hypothyroidism
- Thyroid hypofunction causes reduced production of both T4 and T3.
- Congenital hypofunction (reduced or absent function) occurs as a result of an absent or
nonfunctioning thyroid gland in a newborn.
- The cause of the disorder is usually unknown.
- The condition may not be noticeable initially, because the mother’s thyroid hormones maintain
adequate levels in the fetus during pregnancy.

Clinical Manifestations
- Symptoms: first 3 months of life in a formula-fed infant and at about 6 months in a breastfed
infant.
- Progressive physical and cognitive challenges.
- Child sleeps excessively.
- The tongue becomes enlarged, causing respiratory difficulty, noisy respirations, or obstruction.
- The child may suck poorly because of sluggishness or choking.
- The skin of the extremities usually feels cold, and the overall body temperature may be
subnormal because of slowed metabolism.
- A slow metabolic rate is also revealed by slow pulse and respiratory rates.
- Prolonged jaundice may be present, due to the immature liver’s inability to conjugate bilirubin.
- The child’s neck appears short and thick.
- The facial expression becomes dull, as the result of becoming cognitively challenged, and open-
mouthed because of the child’s attempts to breathe around the enlarged tongue.
- The extremities appear short and fat, with hypotonic muscles, giving the infant a floppy, rag-doll
appearance.
- Deep tendon reflexes are decreased from normal.
- Generalized obesity usually occurs. Hair is brittle and dry.
- Dentition is delayed, or teeth may be defective when they do erupt. An ultrasound reveals a
small or absent thyroid gland.
- The hypotonia affects the intestinal tract as well, so the infant develops chronic constipation;
the abdomen enlarges because of intestinal distention and poor muscle tone.
- Many infants have an umbilical hernia.
- Overall, the skin is dry and perhaps scaly, and the child does not perspire.
Diagnostic Evaluation
- Newborn Screening.
- A screening test for hypothyroidism is mandatory at birth (using the same few drops of blood
obtained for a Guthrie or phenylketonuria [PKU] test).
- Infants have low radioactive iodine uptake levels, low serum T4 and T3 levels, and elevated
thyroid-stimulating factor.
- Blood lipids are increased. Radiographs may reveal delayed bone growth.

Therapeutic Management
- Oral administration of synthetic thyroid hormone, sodium levothyroxine.
- A small dose is given at first, and then the dose is gradually increased to therapeutic levels.
- The child needs to continue taking medication indefinitely to supplement that which the thyroid
does not make.
- Supplemental vitamin D may also be given to prevent the development of rickets, with the
administration of thyroid hormone, rapid bone growth begins.
- Further cognitive challenges can be prevented as soon as therapy is started, but any degree of
impairment that is already present cannot be reversed.

Nursing Care Management

- Helping parents administer medication over a long period is a major nursing role.
- Be certain that parents know the rules for long-term medication administration with children,
particularly the rule about not putting medicine in a large amount of food (thyroxine tablets
must be crushed and added to food or a small amount of formula or breast milk).
- Periodic monitoring of T4 and T3 helps to ensure an appropriate medication dosage.
- If the dose of thyroid hormone is not adequate, the T4 level will remain low, and there will be
few signs of clinical improvement.
- If the dose is too high, the T4 level will rise, and the child will show signs of hyperthyroidism:
irritability, fever, rapid pulse, and perhaps vomiting, diarrhea, and weight loss.

2. Acquired Hypothyroidism (Hashimoto’s Thyroiditis)

- Hashimoto’s disease is the most common form of acquired hypothyroidism in childhood; the
age at onset is often 10 to 11 years.
- Family history of thyroid disease.
- Occurs more often in girls than in boys.
- The decrease in thyroid secretion is caused by the development of an autoimmune
phenomenon that interferes with thyroid production.
- Excretion of thyroid-stimulating hormone (TSH) from the pituitary increases when thyroid
hormone production decreases, in an attempt to cause the thyroid to be more effective.

Clinical Manifestations
- In response to TSH, hypertrophy of the thyroid gland (goiter) occurs.
- Body growth is impaired by lack of thyroxine.
- In infants, congenital goiter can lead to airway obstruction.
- In children, prominent symptoms are obesity, lethargy, and delayed sexual development. –
- Antithyroid antibodies will be present in serum if the illness was caused by an autoimmune
process.
- The thyroid not only enlarges but may become nodular in response to the oversecretion of TSH.

Diagnostic Evaluation
- Children are administered radioactive iodine.
- If the nodes are benign, there is generally a rapid uptake of radioactive iodine (“hot nodes”).
- If there is no uptake (“cold nodes”), carcinoma is a much more likely diagnosis (rare at this age).

Therapeutic Management
- Administration of synthetic thyroid hormone (sodium levothyroxine), the same as for congenital
hypothyroidism.
- With adequate dosage, the obesity diminishes and growth begins again.

Nursing Care Management:

- It is important that the disease be recognized as early as possible so there is time to stimulate
growth before the epiphyseal lines close at puberty.
- If acquired hypothyroidism exists in a woman during pregnancy, her infant can be born
cognitively challenged. Therefore, it is important that girls with this syndrome be identified
before they reach childbearing age.
- Reinforcing instructions for thyroid therapy.

3. Hyperthyroidism (Graves’ Disease)

- Oversecretion of thyroid hormones by the thyroid gland.
- In children, it usually occurs at the time of puberty or during adolescence.
- More common in girls than in boys.
- Overactivity of the thyroid gland can occur from the gland’s being overstimulated by TSH from
the pituitary gland due to a pituitary tumor.
- Hyperthyroidism in children is caused by an autoimmune reaction that results in overproduction
of immunoglobulin G (IgG), which stimulates the thyroid gland to overproduce thyroxine.
- An exophthalmos-producing pituitary substance causes the prominent-appearing eyes that
accompany hyperthyroidism in some children.

Clinical Manifestations
- Graves’ disease often follows a viral illness or a period of stress.
- With overproduction of T3 and T4, children gradually experience nervousness, loss of muscle
strength, and easy fatigue.
- Their basal metabolic rate is high; blood pressure and pulse are increased.
- They perspire freely.
- They are always hungry, and, although they eat constantly, they do not gain weight and may
even lose weight because of the increased basal metabolic rate.
- Exophthalmos.
Diagnostic Evaluation
- On radiography, bone age appears advanced beyond the chronologic age of the child.
- The thyroid gland, which usually is not prominent in children, appears as a swelling on the
anterior neck (goiter) - This enlargement can be confirmed by ultrasound.
- When the child protrudes the tongue or extends the hands, fine tremors are noticeable.
- Laboratory tests show elevated T4 and T3 levels and increased radioactive iodine uptake.
- TSH is low or absent because the thyroid is being stimulated by antibodies, not by the pituitary
gland.

Therapeutic Management
- Therapy consists first of a course of a beta-adrenergic blocking agent, such as propranolol, to
decrease the antibody response.
- After this, child is placed on an antithyroid drug, such as propylthiouracil (PTU) or methimazole
(Tapazole), to suppress the formation of thyroxine.
- While the child is taking these drugs, the blood is monitored for leukopenia (decreased white
blood cell count) and thrombocytopenia (decreased platelet count), side effects of the drugs.
- If either of these results, the drug is discontinued until the white blood cell or platelet count
returns to normal, so the child does not develop an infection or experience spontaneous
bleeding.
- It takes about 2 weeks for these drugs to have an effect.
- The child usually has to take the drug for 2 to 3 years before the condition “burns itself out.
- If the child has a toxic reaction to medical management (severely lowered white blood cell count
or platelet count) or is noncompliant about taking the medicine, radioiodine ablative therapy
with 131I to reduce the size of the thyroid gland can be accomplished.
- Surgical removal of part or almost all of the thyroid gland, which may be necessary in a young
adult.
- After both radioiodine ablative therapy and thyroidectomy, supplemental thyroid hormone
therapy may be needed indefinitely because the gland is no longer able to produce an adequate
amount.
- It is important that adolescent girls be carefully regulated before they consider childbearing as
high hyperthyroidism during pregnancy can lead to hypothyroidism in a fetus.

Nursing Care Management

- Identification of children with hyperthyroidism.
- Exophthalmos may develop long before the onset of signs and symptoms.
- Heat intolerance may produce considerable family conflict.
- Wear minimum clothing and remove blankets while sleeping.
- Adequate hydration.
- Hygiene should be stressed because of excessive sweating.
- Dietary requirements should be adjusted to meet the child’s increased metabolic rate.
- Provide wholesome foods rather than “junk” foods.
- Rather than three large meals, the child’s appetite may be better satisfied by five or six
moderate meals throughout the day.
- Explain the drug regimen.
 - Explain the untoward side effects of the antithyroid drugs (urticarial rash, fever, arthritis, or
arthralgia).
- Parents should be aware of the signs of hypothyroidism – which can occur from overdose of the
drugs (lethargy and somnolence).

Learning activity related to Thyroid gland disorders

State a possible expected outcome and enumerate the related nursing interventions based on the
identified nursing diagnosis.
Nursing Diagnosis: Situational low self-esteem related to lack of coordination and presence of prominent
goiter
Expected outcome:
Related interventions:

Levothyroxine - Action:
Nursing respomsibilities:

ADRENAL GLANDS DISORDERS

Adrenal hormones
- Consists of 2 distinct portions:
 Cortex – outer section, secretes hormones called steroids which are essential to life.
secretes 3 groups of hormones;
1. Glucocorticoids (cortisol, corticostirone)
2. Mineralocorticoids (aldosterone)
3. Sex steroids ( androgens, estrogens, and progestins.

 Medulla – inner core, produces the cathecholamines epinephrine and norepinephrine.

1. Acute Adrenocortical Insufficiency

- Insufficient or hypofunction of the adrenal gland, may be either acute or chronic.
- Only one hormone is involved, and the symptoms are directly related only to that hormone.
- Usually this occurs in association with severe overwhelming infection, typically involving
hemorrhagic destruction of the adrenal glands.
- Common in meningococcemia.
- It also can occur when corticosteroid therapy that has been maintained at high levels for long
periods is abruptly stopped.

Clinical Manifestations
- Blood pressure drops to extremely low levels.
- Child appears ashen gray and may be pulseless.
- Temperature becomes elevated.
- Dehydration and hypoglycemia (an abnormally low concentration of blood glucose) are marked.
- Sodium and chloride blood levels are very low.
- Serum potassium is elevated, because there is usually an inverse relationship between sodium
and potassium values.
- Seizures may occur.
- Without treatment, death can occur abruptly.

Diagnostic Evaluation
- There is no rapid, definitive test for confirmation of acute adrenocortical insufficiency.
- The diagnosis is usually made based on clinical presentation.
- Improvement with cortisol therapy confirms the diagnosis.

Therapeutic Management
- Immediate replacement of cortisol (with IV hydrocortisone sodium succinate [Solu-Cortef]).
- Administration of deoxycorticosterone acetate (DOCA), the synthetic equivalent of aldosterone;
and IV 5% glucose in normal saline solution to restore blood pressure, sodium, and blood
glucose levels.
- A vasoconstrictor may be necessary to elevate the blood pressure further.
- Acute adrenocortical insufficiency is a medical emergency. Although it is seen less often now
than in the past, because of the availability of antibiotics that quickly halt the course of
infectious disease, it is not an obsolete entity.

Nursing Care Management

- Vital signs every 15 minutes to monitor the hyperpyrexia and shocklike state.
- Seizures precautions.
- Monitor child’s response to fluid and cortisol replacement.
- Too rapid administration of fluids can precipitate cardiac failure.
- Over dosage with cortisol may result to hypotension & hypothermia.
- Intake & urinary output are recorded.
- Once the acute phase is over and the hypovolemia is corrected, the child is given oral fluids in
small quantities.
- Too rapid ingestion of oral fluids may induce vomiting which increases dehydration.
- Nurse should plan a gradual schedule for reintroducing liquids.

2. Chronic Adrenocortical Insufficiency (Addison’s Disease)

- Rare in children.
- Caused by destructive lesion of the adrenal gland or neoplasms.
- Generalized tuberculosis was the leading cause of adrenal gland destruction.

Clinical Manifestations
 Glucocorticoid
- Fasting hypoglycemia: headache, diaphoresis, weakness, trembling, hunger, seizures.
- Decreased gastric acidity: anorexia, nausea, vomiting.
- Fatigue: increased sleeping, listlessness
- Psychologic symptoms: irritability, apathy, negativism
 Mineralocorticoid
- Muscle weakness
- Weight loss
- Fatigue
- GI symptoms
- Nutritional symptoms: salt craving
- Circulatory: hypotension, fainting, dizziness
- Electrolyte imbalance: hyperkalemia, hyponatremia, acidosis
- Psychologic symptoms: irritability, apathy, negativism
 Androgen deficiency
- Integumentary: Decreased pubic hair and axillary hair
- Psychologic: decreased libido

Diagnostic Evaluation
- Definitive diagnosis is based on measurements of functional cortisol reserve.
- Cortisol and urinary 17-hydroxycorticosteroid levels are low and fail to rise while plasma ACTH
levels are elevated with corticotropin (ACTH) stimulation – the definitive test for the disease.

Therapeutic Management
- Replacement of glucocorticoids (cortisol) and mineralocorticoids (aldosterone).
- Oral replacements of cortisol (cortisone or hydrocortisone preparations) with a liberal intake of
salt.
- During stressful situations such as fever, infection, emotional upset, or surgery, the dosage must
be tripled to accommodate the body’s increased need for glucocorticoids.
- Failure to meet the requirement will precipitate an acute crisis.
- Overdosage produces appearance of cushingoid signs.
- Other forms of therapy: monthly injections of desoxycorticosterone acetate or implantation of
desoxycorticosterone acetate pellets subcutaneously every 9 to 12 months.

Nursing Care Management

- Parents need guidance concerning drug therapy.
- Sudden termination of drugs places the child in danger of an acute adrenal crisis.
- Emphasizing the importance of routine follow-up care is a significant nursing responsibility.
- The child should wear medical identification bracelet.

3. Cushing’s Syndrome
- Caused by overproduction of the adrenal hormone cortisol; this usually results from increased
ACTH production due to a pituitary tumor.
- It may occur from a malignant or benign tumor of the adrenal cortex.
- The peak age of occurrence is 6 or 7 years, but the syndrome can occur as early as infancy.
- Children who receive high doses of synthetic corticosteroids, such as prednisone, over a long
period may develop the same symptoms as those observed in Cushing syndrome.
- Cushingoid appearance.
- Cushing syndrome is often suspected as the cause of obesity in children, and some obese
children do have elevated levels of plasma corticosteroids, a fact that complicates the diagnosis.

Clinical Manifestations
- Overproduction of cortisol results in increased glucose production; this causes fat to accumulate
on the cheeks, chin, and trunk, causing a moon-faced, stocky appearance.
- Cortisol is catabolic, so protein wasting occurs → muscle wasting, making the extremities
appear thin.
- Loss of protein matrix in bones → osteoporosis (loss of calcium in bones).
- Cortisol also suppresses the immune system, so humoral immunity is decreased, → children
susceptible to infection.
- It causes vasoconstriction, so extreme hypertension may occur.
- Hyperpigmentation occurs from the melanin-stimulating properties of ACTH. →causes the
child’s face to be unusually red, especially the cheeks.
- Signs of abnormal masculinization or feminization may occur from accompanying
overproduction of androgen or estrogen.
- Purple striae resulting from collagen deficit appear on the child’s hips, abdomen, and thighs,
similar to those seen in pregnancy.
- Polyuria develops as the body tries to excrete increased glucose levels.
- Growth ceases, if the condition is not reversed before the epiphyseal lines close, short stature
results. .
- Children with natural obesity are generally tall; those with Cushing syndrome are short.

Diagnostic Evaluation
- Dexamethasone suppression test confirms the diagnosis. If a child without the syndrome is
given a test dose of dexamethasone (a glucocorticoid), the plasma level of adrenal cortisol will
fall. It will not fall in children with adrenocortical tumors, because the tumor continues to
stimulate the adrenal glands to oversecretion.
- If cosyntropin (Cortrosyn), a synthetic corticotropin, or ACTH is administered, plasma cortisol
levels will normally rise. In patients with an adrenal tumor, the gland is already functioning at
full capacity, so no cortisol elevation occurs.
- CT scan or ultrasound reveals the enlarged adrenal or pituitary gland, confirming the diagnosis.

Therapeutic Management
- Treatments depends on the cause.
- Surgical intervention - bilateral adrenalectomy and postoperative replacement of the cortical
hormones.
- For pituitary tumor – surgical extirpation or irradiation.
- Treatment of panhypopituitarism with replacement of GH, thyroid extract, ADH, gonadotropins,
and steroids.
Nursing Care Management
- When cushingoid features are caused by steroid therapy, the effects may be lessened with
administration of the drug early in the morning and on an alternate-day basis. Giving the drug
early in the day maintains the normal diurnal pattern of cortisol secretion.
- An alternate-day schedule allows the anterior pituitary an opportunity to maintain more normal
hypothalamic-pituitary-adrenal control mechanisms.
- If given during evening – more likely to produce symptoms because endogenous cortisol levels
are already low and the additional supply exerts more pronounced effects.

4. Congenital Adrenal Hyperplasia

- CAH
- Family disorders caused by decreased enzyme activity required for cortisol production in the
adrenal cortex.
- 21 hydroxylase deficiency.

Clinical Manifestations
- Excessive androgens → masculinization of the urogenital system at the 10 th week of fetal
development.
- Most pronounced abnormalities occur in the girl (ambiguous genitalia).
- Masculinization of external genitalia causes the clitoris to enlarge (appears as a small phallus).
- Fusion of the labia produces a saclike structure resembling the scrotum without testes.
- Males do not display abnormalities at birth.
- Increased pigmentation of skin creases & genitalia caused by increased ACTH
- Salt-wasting crisis within a first few weeks of life; infants fail to gain weight, and hyponatremia
at birth.
- Untreated CAH – early sexual maturation with enlargement of the external sexual organs,
development of axillary, pubic hair, and facial hair; deepening of the voice; acne; and marked
increased in musculature with changes toward an adult male physique.
- However, breast do not develop in the female, and remains amenorrheic and infertile.
- Male testes remain small, and spermatogenesis does not occur.
- In both sexes – linear growth is accelerated, & epiphyseal closure is premature, resulting in short
stature by the end of puberty.

Diagnostic Evaluation
- Initially based on congenital abnormalities that lead to difficulty assigning sex to the newborn
and on signs and symptoms of adrenal insufficiency or hypertension.
- Definitive diagnosis confirmed by evidence of increased 17-ketosteroid levels.
- Chromosome typing for positive sex determination to rule out any other genetic abnormality.
- Ultrasonography – to visualize the presence of pelvic structures; identifies the absence or
presence of female reproductive organs in a newborn or child with ambiguous genitalia.

Therapeutic Management
- Initial medical objective – confirm the diagnosis and assign a sex to the child.
- In both sexes – cortisone is administered to suppress the abnormally high secretions of ACTH.
 - If cortisone is given early – very effective.
- Cortisone depress the secretion of ACTH by adenohypophysis – which in turn inhibits the
secretion of adrenocorticosteroids, which stems the progressive virilization.
- The recommended oral dosage is divided to stimulate the normal diurnal pattern of ACTH
secretion.
- Children with the salt-losing type of CAH require aldosterone replacement.
- Depending on the degree of masculinization in the female, reconstructive surgery may be
required to reduce the size of the clitoris, separate the labia, and create a vaginal orifice.

Nursing Care Management

- Recognition of ambiguous genitalia.
- Parents need to be told immediately to prevent the embarrassing situation of informing family
members.
- Parents require an adequate explanation of the condition and time to grieve for the loss of
perfection.
- Before confirmation of the diagnosis and the sex of the child, the nurse should refer to the
infant as “child” or “baby” rather than “he” or “she” and definitely not “it”.
- Parents should be informed of the findings and encourage to choose an appropriate name, and
the child should be identified as a male or female.
- Infants are especially prone to dehydration and salt losing crisis, parents need to be aware of
signs of dehydration and urgency of medical intervention.
- Parents should have injectable hydrocortisone available and know how to prepare and
administer the IM injection.

Learning Activity: CAH

A. State a possible expected outcome and related nursing interventions based on the identified nursing
diagnosis.
Nursing Diagnosis: Situational low self-esteem related to genital formation at variance with true gender.
Expected outcome:
Related interventions:

Rob has his adrenal gland function assessed. What is the effect on a child when sufficient aldosterone
cannot be produced?
a. Substantially fewer red blood cells are produced.
b. There is an overall decreased urine output.
c. An excessive amount of sodium is lost in urine.
d. The child’s growth rate increases abnormally.

Which of the following tests is used to diagnose Cushing’s syndrome?

a. Fluid deprivation test
b. Glucose tolerance test
c. Dexamethasone suppression test
d. Thallium stress test
NEWBORN SCREENING
- Newborn screening (NBS) is a public health program of screening in infants shortly after birth for
conditions that are treatable, but not clinically evident in the newborn period.
- The goal is to identify infants at risk for these conditions early enough to confirm the diagnosis
and provide intervention that will alter the clinical course of the disease and prevent or
ameliorate the clinical manifestations.
- NBS started with the discovery that the amino acid disorder phenylketonuria (PKU) could be
treated by dietary adjustment, and that early intervention was required for the best outcome.
Infants with PKU appear normal at birth, but are unable to metabolize the essential amino acid
phenylalanine, resulting in irreversible intellectual disability.
- In the 1960s, Robert Guthrie developed a simple method using a bacterial inhibition assay that
could detect high levels of phenylalanine in blood shortly after a baby was born. Guthrie also
pioneered the collection of blood on filter paper which could be easily transported, recognizing
the need for a simple system if the screening was going to be done on a large scale. Newborn
screening around the world is still done using similar filter paper. NBS was first introduced as a
public health program in the United States in the early 1960s, and has expanded to countries
around the world.
- NBS tests are done by measuring metabolites or enzyme activity in whole blood samples
collected on filter paper.
Bedside tests for hearing loss using automated auditory brainstem response and congenital
heart defects using pulse oximetry are included in some NBS programs.

1. Congenital Hypothyroidism (page 1)

2. Congenital adrenal hyperplasia (page 9)

3. Phenylketonuria
- PKU is a disease of metabolism that is inherited as an autosomal recessive trait.
- Absence of the liver enzyme phenylalanine hydroxylase prevents conversion of phenylalanine,
an essential amino acid, into tyrosine (a precursor of epinephrine, thyroxine, and melanin).
- As a result, excessive phenylalanine builds up in the bloodstream and tissues, causing
permanent damage to brain tissue and leaving children severely cognitively challenged.
- The metabolite phenylpyruvic acid (a breakdown product of phenylalanine) spills into the urine
to give the disorder its name.
- Characterized by blood phenylalanine levels greater than 8mg/dl (normal level is less than
2mg/dl, 2to5 days after birth.
- The child fails to meet average growth standards because of the lack of thyroxine production.
- PKU is found in 1 of every 10,000 births in the United States.
- If the condition remains untreated, the child with PKU usually will have an IQ below 20.

Clinical Manifestations
- In all children:
o Digestive problem and vomiting
o Seizures
 o Musty odor of the urine odor that is so strong, it often pervades not only the urine but
the entire child.
- In older children:
o Eczema
o Hypertonia
o Hypopigmentation of the hair, skin, and irises. (Tyrosine is necessary for building
body pigment and is incorporated into thyroxine. Without it, body pigment fades
and the child becomes very fair skinned, light blonde haired, and blue eyed)
o Hyperactive behavior.

Diagnostic Evaluation
- Early identification of the disorder is essential to prevent the child from becoming severely
cognitively challenged.
- Infants are screened at birth after receiving 2 full days of feedings (at least 120 mL of formula at
a concentration of 20 calories per ounce, or the equivalent amount obtained by breastfeeding).
- The screening is done by pricking the infant’s heel with a blood lancet and letting a few drops of
blood fall onto a specially prepared filter paper.
- The filter paper is then analyzed by a bacterial inhibition process for the amount of
phenylalanine contained in the infant’s blood (the Guthrie test).
- PKU cannot be detected by amniocentesis or percutaneous umbilical cord blood sampling as a
routine screening measure, because the phenylalanine level does not rise in utero, while the
infant is still under the control of the mother’s enzyme system.
- Recombinant DNA techniques can be used for carrier detection and prenatal diagnosis.
- If an infant is born at home or is discharged from a hospital or birthing center before the second
day of life, the parents will need to have the test performed on the second or third day after
birth.
- If there is a question as to whether a breastfed baby has received only colostrum, a repeated
Guthrie test should be performed by the second week of life, during a health care visit.

Therapeutic Management
- Infants in whom this disease is detected during the first few days of life are placed on a formula
that is extremely low in phenylalanine, such as Lofenalac.
- Beginning the diet early helps to keep the child from becoming cognitively challenged.
- A dietitian may recommend that a small amount of milk be added to the infant’s diet every day
so the child does receive some phenylalanine (this essential amino acid is necessary for growth
and repair of body cells).
- A mother who wants to breastfeed may be able to do so on a limited basis. Parents of children
with PKU need a realistic prognosis of their child’s potential.
- Providing nutrition for a child with PKU is a difficult task.
- There is no natural protein with both a low phenylalanine concentration and normal levels of
other essential amino acids.
- Unfortunately, amino acid formulas have a rather disagreeable taste.
- As children grow older and have solid foods added to their meals, these foods also must be low
in phenylalanine so that the phenylalanine level of the child’s blood stays below 8 mg/dL.
 - Foods highest in phenylalanine are those that are rich in protein, such as meats, eggs, and milk.
- Foods low in phenylalanine include orange juice, bananas, potatoes, lettuce, spinach, and peas.
- Lofenalac can be used to prepare treat foods, such as ice cream, milk shakes, birthday cakes,
and puddings (foods that would otherwise be forbidden because they are made with milk).
- Children need their blood and urine monitored frequently for phenylalanine levels.
- Hemoglobin levels should also be closely monitored to ensure that the child is not becoming
anemic, because iron is found primarily in protein-rich foods, which the child must avoid.

Nursing Care Management

- At health visits, offer parents an opportunity to express their feelings about the difficulty of
maintaining a young child on such a restricted diet.
- Assess the child’s ability to cope with the illness; by the time they reach adolescence, children
grow tired of the constant testing and restrictive diet.
- Monitor physical, neurological, and intellectual development.
- When to discontinue the diet is controversial because of reports of progressive neurologic
deterioration in children who no longer follow a restricted diet.
- Current advice is for children to follow the diet indefinitely although discontinuing the diet in
adolescence may lead to only subtle differences.
- A woman who has PKU must anticipate when she wants to have children as an adult; if she has
not been following her diet conscientiously, she must return to a low-phenylalanine diet for
about 3 months before conception and remain on the diet during pregnancy. Otherwise, her
fetus will be exposed to high levels of phenylalanine during pregnancy and will be born
cognitively challenged.
- Stress the importance of follow-up treatment.

4. Glucose 6 phosphate dehydrogenase deficiency (G6PD)

- G6PD deficiency is a genetic condition that is passed along from one or both parents to their
child. The defective gene that causes this deficiency is on the X chromosome, which is one of the
two sex chromosomes. Men have only one X chromosome, while women have two X
chromosomes. In males, one altered copy of the gene is enough to cause G6PD deficiency.
- In females, however, a mutation would have to be present in both copies of the gene. Since it’s
less likely for females to have two altered copies of this gene, males are affected by G6PD
deficiency much more frequently than females.
- G6PD deficiency is a genetic abnormality that results in an inadequate amount of glucose-6-
phosphate dehydrogenase (G6PD) in the blood.
- This is a very important enzyme (or protein) that regulates various biochemical reactions in the
body.
- G6PD is also responsible for keeping red blood cells healthy so they can function properly and
live a normal life span. Without enough of it, red blood cells break down prematurely.
- This early destruction of red blood cells is known as hemolysis, and it can eventually lead to
hemolytic anemia.
- Hemolytic anemia develops when red blood cells are destroyed faster than the body can replace
them, resulting in reduced oxygen flow to the organs and tissues. This can cause fatigue,
yellowing of the skin and eyes, and shortness of breath.
 - Triggers of hemolysis in kids with G6PD deficiency include:
 illness, such as bacterial and viral infections
 some painkillers and fever-lowering drugs (aspirin)
 some antibiotics (most often those with "sulf" in their names)
 some antimalarial drugs (most often those with "quine" in their names)
 fava beans (also called broad beans) or certain kind of legumes.
 naphthalene (a chemical found in mothballs and moth crystals). Mothballs can be very
harmful if a child swallows one.
 some nonsteroidal anti-inflammatory medications (NSAIDs)

- Most people with G6PD deficiency usually don't experience any symptoms. However, some may
develop symptoms when they’re exposed to the medication, food, or infection that triggers the
early destruction of red blood cells.
- Once the underlying cause is treated or resolved, symptoms of G6PD deficiency usually
disappear within a few weeks.

Clinical Manifestations
- rapid heart rate
- shortness of breath
- urine that is dark or yellow-orange
- fever
- fatigue
- dizziness
- paleness
- jaundice, or yellowing of the skin and whites of the eye

Diagnostic Evaluation
- Simple blood test to check G6PD enzyme levels.
- Other diagnostic tests that may be done include a complete blood count, serum hemoglobin
test, and a reticulocyte count. All these tests give information about the red blood cells in the
body. They can also help to diagnose hemolytic anemia.

Therapeutic Management
- Treatment for G6PD deficiency consists of removing the trigger that is causing symptoms.
- If the condition was triggered by an infection, then the underlying infection is treated
accordingly. Any current medications that may be destroying red blood cells are also
discontinued. In these cases, most people can recover from an episode on their own.
- Once G6PD deficiency has progressed to hemolytic anemia, more aggressive treatment may be
required - includes oxygen therapy and a blood transfusion to replenish oxygen and red blood
cell levels.
Nursing Care Management
- The best way to care for a child with G6PD deficiency is to limit exposure to anything that
triggers symptoms.

5. Galactosemia
- Disorder of carbohydrate metabolism that is characterized by abnormal amounts of galactose in
the blood (galactosemia) and in the urine (galactosuria).
- It occurs in about 1 in every 60,000 births, most often as an inborn error of metabolism,
transmitted as an autosomal recessive trait.
- The child is deficient in the liver enzyme galactose-1-phosphate uridyltransferase.
- Lactose (the sugar found in milk) normally is broken down into galactose and glucose; galactose
is then further broken down into additional glucose. Without the galactose 1-phosphate
uridyltransferase enzyme, this second step, the conversion of galactose into glucose, cannot
take place, and galactose builds up in the bloodstream and spills into the urine. When it reaches
toxic levels in the bloodstream, it destroys body cells.

Clinical Manifestations
- Symptoms appear as soon as the child begins formula feeding or breastfeeding and include
lethargy, hypotonia, and perhaps diarrhea and vomiting.
- The liver enlarges as cirrhosis develops.
- Jaundice is often present and persistent; bilateral cataracts develop.
- The symptoms begin abruptly and worsen rapidly.
- If the condition remains untreated, a child may die by 3 days of age.
- Untreated children who survive beyond this time may be cognitively challenged and have
bilateral cataracts.

Diagnostic Evaluation
- Diagnosis is made by measuring the level of the affected enzyme in the red blood cells.
- A screening test (the Beutler test) can be used to analyze cord blood if a child is known to be at
risk for the disorder.
- Increased galactose in the blood.
- Decreased levels of uridine diphosphate (UDP).

Therapeutic Management
- The treatment of galactosemia consists of placing the infant on a diet that is free of galactose or
on a formula made with milk substitutes such as casein hydrolysates (Nutramigen).
- Eliminating all milk and lactose containing foods, including breast milk.
- Use of lactose-free formula with soy-protein.
- Supportive treatment and care are implemented, monitoring for hypoglycemia, liver failure,
bleeding disorders, and E. coli sepsis.
- Once the child’s condition is regulated on this diet, symptoms of the disease do not progress;
however, any neurologic or cataract damage that is already present will persist, (long term
neurologic complications –ovarian dysfunction, abnormal speech, cognitive impairment,
hypergonadotropic hypogonadism, growth retardation, and impaired motor function).

Nursing Care Management

- Because early detection is the key to preventing brain damage, nursing assessment is
particularly important in this disorder.
- Dietary restrictions.
- Reading food labels carefully for the presence of any form of lactose (dairy products) is
mandatory.
- Drugs such of the penicillin preparations contain lactose as filler must be avoided.

6. Maple Syrup Urine Disease

- A rare disorder, inherited as an autosomal recessive trait, in which there is a defect in
metabolism of the amino acids leucine, isoleucine, and valine that leads to cerebral
degeneration similar to that observed in children with PKU.

Clinical Manifestations
- Infants who have the disorder appear well at birth but quickly begin to show signs of feeding
difficulty, loss of the Moro reflex, and irregular respirations.
- The symptoms progress rapidly to opisthotonus, generalized muscular rigidity, and seizures.
- If the condition remains untreated, an infant may die of the disease as early as 2 to 4 weeks of
age.
- By the first or second day of life, the urine of the child develops the characteristic odor of maple
syrup; hence the name of the disease.
- The odor is caused by the presence of ketoacids, the same phenomenon that makes the breath
of diabetic children in severe acidosis smell sweet.

Diagnostic Evaluation
- Infants are screened at birth for the disorder. (Newborn screening).
- Prenatal detection is possible by analyzing cells obtained by amniocentesis.

Therapeutic Management
- If maple syrup urine disease is diagnosed during the first day or two of life and the child is placed
on a well-controlled diet that is high in thiamine and low in the amino acids leucine, isoleucine,
and valine, the cerebral degeneration can be prevented, just as it can be prevented in PKU.
 - Hemodialysis or peritoneal dialysis can be used to temporarily reduce abnormal serum levels at
birth or during a childhood infection, when catabolism of cells releases increased amino acids
into the bloodstream.

Nursing Care Management

- Parents need intensive nutritional counseling.
- Because nurses change newborn diapers so are likely to detect the characteristic urine odor in
the first few days of life, they should be aware of this disorder so that they do not discount the
pleasant urine odor as an innocent finding.
***************************

Learning activity:
1. What if... You are helping at a preschool and notice a teacher assistant urging a little boy
with PKU to drink his milk? When you suggest that milk might not be good for him, the
teacher says, “Of course it is. Milk is nature’s perfect food.” How would you respond? What
would you do?

2. A newborn is diagnosed as having glucose 6 phosphate dehydrogenase deficiency. What

would be the most important measure to teach?

3. Why are all babies screened at birth?

NOTE:

PLEASE WRITE YOUR ANSWER ON A SHORT BOND PAPER.

FOR THE MULTIPLE CHOICE, PLEASE INCLUDE RATIONALE FOR YOUR ANSWER.

KEEP SAFE EVERYONE 