Parathyroid Glands

HYPOCALCEMIA- lowered blood calcium level that occurs to some extent in all
newborns before they begin sucking well.

More common to:

- infants who experienced birth anoxia
- immature infants (the parathyroid glands are immature)
- infants of women with diabetes
-
Assessment
 neuromuscular irritability, referred to as latent tetany
 jitteriness when handled
 infant has been crying for an extended period
 blood calcium level falls well below 7 mg/dl
 muscular twitching
 carpopedal spasm (abduction of the hand and flexion of the wrist with the
thumb positioned across the palm)
 pedal spasm (foot spasm), the foot is extended, the toes flex, and the sole of
the foot cups.

Therapeutic Management (Goal: increasing the calcium level in the blood)

- (orally) 10% calcium chloride if the infant can & will suck
- (IV) 10% solution of calcium gluconate.
- anticonvulsant therapy for seizures
- Intubation – to relive laryngospasm
- Oral calcium therapy – for immediate therapy to increase the low blood calcium
levels
- *Calcium level should be stabilized at greater than 7.5 mg/dl
- Vitamin D (Calcitriol) -necessary for absorption of calcium from GI tract.
Metabolic Disorders (Inborn Errors of Metabolism)
Due to inherited biochemical disorders that disrupt the metabolism of amino acids,
proteins, carbohydrates, or lipids.

PHENYLKETONURIA (PKU)
A disease of metabolism, which is inherited as an autosomal recessive trait. The
infant lacks the liver enzyme phenylalanine hydroxylase, which is necessary to convert
phenylalanine, an essential amino acid, into tyrosine. As a result, excessive phenylalanine
levels build 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. It causes urine to have a typical musty or
“mousy” odor that is so strong that it often pervades not only the urine but the entire child

Assessment
- Musty or mousy odor of urine or perhaps the child as well smells like it.
- Eyes becomes blue-eyed
- Very fair skin
- Light blonde air
- Fails to meet average growth standards
- Seizure disorder may develop
- Eczema 9atpic dermatitis)
- If remains untreated, the child will be left with an IQ below 20, muscular
hypertonicity (stiffness), and spasticity, and possible recurrent seizures.

Therapeutic
- Dietary restriction
- Large neutral amino acids- alternative treatment
- Sapropterin (Kuvan) which works by increasing tolerance to phenylalanine.
- Formula should be extremely low in phenylalanine, such as Lofenalac.
- Avoid consuming protein rich foods, because it will increase blood phenylalanine
level
- Diet tends to be high in carbohydrates- to replace protein

*Foods highest in phenylalanine are those rich in protein, such as meats,

eggs, and milk.

*Foods low in phenylalanine include orange juice, bananas, potatoes,

lettuce, spinach, and peas.

MAPLE SYRUP URINE DISEASE

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

Assessment
*Newborns appear well at birth
- difficulty feeding
- loss of moro reflex
- Irregular respirations
- opisthotonos- generalized muscular rigidity and seizures.
- urine has odor of maple syrup – due to presence of ketoacids
 - A well controlled diet that is high in thiamine & low in amino acids leucine,
isoleucine, and valine so cerebral degeneration can be prevented
- Hemodialysis or peritoneal dialysis may be necessary to temporarily reduce abnormal
serum levels

GALACTOSEMIA
a disorder of carbohydrate metabolism that is characterized by abnormal amounts of
galactose in the blood (galactosemia) and in the urine (galactosuria).
- inborn error of metabolism, which is transmitted as an autosomal recessive trait.
- The child is deficient in the liver enzyme galactose-1-phosphate uridyltransferase

Lactose (sugar found in milk) 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 out into the
urine. When it reaches toxic levels in the bloodstream, it destroys body cells.

Assessment
- Lethargic
- Hypotonia
- Diarrhea
- Vomiting
- Liver enlarges as cirrhosis develops.
- Jaundice
- Bilateral cataracts develop

Therapeutic Management
- diet free of galactose
- giving the child formula made with milk substitutes such as casein hydrolysates
(Nutramigen).

GLYCOGEN STORAGE DISEASE

disease refers to a group of genetically transmitted disorders that involve altered production
and use of glycogen in the body. Glycogen is deposited normally, but an enzyme deficiency
prevents retransformation of the glycogen back to glucose.
In one form of this disorder, children deposit large stores of glycogen not only in the liver
but also in the muscle and heart

Glycogen is normally stored in the liver to provide a reserve supply of glucose.

Assessment
- muscles begin to feel hard on palpation due to the deposits of glycogen.
- Heart become enlarge
- Arrythmia
- Liver increases in size that causes the abdomen to protrude
 - Child’s growth will be stunted because there’s only glucose available for energy, not
for growth.
- Brain damage may result
- Epitaxis or hemorhhage
- At risk for when having surgery performed because of impaired clotting ability
- Development of gout – from deposition of uric acid crystal in joints

Therapeutic Management
- eat a high-carbohydrate diet with snack between meals to prevent hypoglycemia.
- a continuous glucose nasogastric or gastrostomy feeding during the night may be
necessary to prevent hypoglycemia while sleeping
- Therapy with diazoxide (Proglycem) – an antihypoglycemic drug that inhibits insulin
release, may help regulate glucose level to provide additional growth
- Liver transplantation may be a possibility, but it will not cure the basic enzyme the
basic enzyme deficiency.

TAY-SACHS DISEASE (INFANTILE GM2 GANGLIOSIDOSIS)

is an autosomal recessively inherited disease in which the infant
lacks hexosaminidase A – an an enzyme necessary for lipid metabolism.

Without this enzyme, lipid deposits accumulate on nerve cells, leading to severe cognitive
challenge and blindness

Assessment *children appear well in first few months of life

- Extreme Moro reflex
- Mild hypotonia
- A characteristic cherry red macula is noticeable (caused by lipid deposits)
- Spasticity
- Unable to perform simple motor tasks
- Seizures and blindness

Therapeutic Management
- There’s no cure for Tay-Sachs disease