Ballard, APGAR, EINC,

Breastfeeding
GROUP 14
Ballard Scoring
APGAR Score
 APGAR Score
- scoring system described by Dr. Virginia Apgar in 1953
- remains a useful clinical tool to classify newborn health immediately after birth
- to assess the effectiveness of resuscitative measures
- each of five easily identifiable characteristics: heart rate, respiratory effort, muscle tone, reflex irritability, and
color-is assessed and assigned a value of 0, 1, or 2
- The total score, based on the sum of the five components, is determined in all neonates at 1 and 5 minutes after
delivery
- those with a score <7, the score may be calculated at further 5-minute intervals until a 20-minute Apgar score is
assigned or resuscitation efforts are halted
- Certain elements of the Apgar score are partially dependent on the physiological maturity of the newborn, and a
healthy, preterm neonate may receive a low score only because of immaturity
- Other influencing factors include fetal malformations, maternal medications, and infection
Example of Apgar score calculation for a
newborn with hypoxia:

Heart rate = 110 [2]

Respiratory effort = slow, irregular [1]

Muscle tone = some flexion of arms/ legs [1]

Reflex irritability = grimace [1]

Color = blue, pale [0]

Apgar score = 5
Essential Intrapartum Newborn Care
1. Preparing for a birth
● Upon arrival at the facility
■ Introduce yourself to the woman.
■ Obtain the pregnancy history and birth plan.
■ Identify the companion(s) of choice.
■ Examine the woman. Check for pallor, and take: blood pressure (BP), heart rate (HR) or pulse rate (PR),
respiratory rate (RR), temperature.
■ Assess fetal heart rate.
■ Assess the progress and stage of labour

● During Labour
■ Encourage birth companion(s) to be present.
■ Encourage the woman to: move around if she wants and assume a position she is comfortable in, take in
light snacks and oral fluids and empty her bladder.
■ Every 30 minutes: plot heart or pulse rate, contractions and fetal heart rate; 2 hours: plot temperature; and 4
hours: plot blood pressure and cervical dilatation.
Preparing for the birth

● Ensure privacy
● Ensure that the delivery area is between 25–28 °C using a non-mercury room thermometer.
● Turn off fans and/or air-conditioning units
● Introduce yourself to the mother and her companion of choice or support person
● Wash hands with clean water and soap
● Place a dry cloth on her abdomen or within easy reach.
● Prepare the following:
■ clean linen or towel(s),
■ Bonnet
■ Syringe
■ 10 IU ampoule of oxytocin
■ basin with 0.5% chlorine solution for decontamination
■ sterile umbilical clamp or tie, instrument clamp, and scissors
2. Immediate newborn care: the first 90 minutes

● Call out time of birth

● Immediately dry the baby (starting within the first 5 seconds after birth), as follows:
■ use a clean, dry cloth and dry the baby thoroughly;
■ wipe the eyes, face, head, front, back, arms and legs; and
■ do a quick check of baby’s breathing while drying
● Remove wet cloth and place baby in skin-to-skin contact with the mother.
● Cover the baby and mother with a clean warm cloth.
● Cover the baby’s head with a bonnet
● Continue skin-to-skin contact with the baby prone on the mother’s abdomen or chest and turn the baby’s
head to one side
● Explain to the mother that you will be injecting her with oxytocin to make her uterus contract and protect
her from excessive bleeding.
● Put soiled instruments into a decontaminating solution.
● Do appropriately timed cord clamping and cutting
■ Clamp and cut the cord after cord pulsations have stopped (between 1–3 minutes), perform as follows:
● apply a sterile plastic clamp or tie around the cord at 2 cm from the umbilical base
● apply the second clamp at 5 cm from the umbilical base
● cut close to the first clamp or tie using sterile scissors
● apply a second tie if there is oozing blood
■ Put soiled instruments into a decontaminating solution.
● Leave the baby on mother’s chest in skin-to-skin contact, with the head turned to one side and mother in a semi-upright
position, or on her side.
● Observe the baby. Only when the baby shows feeding cues and then suggest to the mother to encourage/nudge her baby
towards the breast
● Provide breastfeeding support to ensure good positioning and attachment.
● Look for signs of good attachment and suckling, including:
■ mouth wide open
■ lower lip turned outwards
■ baby’s chin touching breast
■ slow and deep suckling, with some pauses
● Do eye care
■ After baby has located the breast, administer erythromycin or tetracycline ointment, or 2.5% povidone-iodine drops, to both
eyes according to national guidelines. Apply from the inner corner of each eye, outwards. Do not wash away the eye
antimicrobial
3. Newborn Care - from 90 minutes to 6 hours
● Examine the baby
■ Check for breathing difficulties
■ Check the baby’s temperature, eyes for redness, swelling or pus draining, umbilical stump for oozing blood
■ Check for abdominal distention.
■ Look at the head, trunk and all limbs of the baby. Check for possible birth injuries, including:
○ bumps on one or both sides of the head;
○ bruises, swelling on the buttocks;
○ abnormal position of legs (after breech extraction);
○ asymmetrical arm movement or arm that does not move
■ Look for signs of fracture, including: swelling, or baby crying when part is touched.
■ Look for malformations: club foot (talipes); odd/unusual appearance, open tissue on head, abdomen or
back, no anal opening, or any other abnormalities.
■ Look at the baby’s skin for cuts or abrasions.
■ Look into the baby’s mouth for cleft palate or lip.
■ Inform the mother of your examination findings. Reassure her as necessary.

● Inject a single dose of vitamin K (phytomenadione) 1 mg IM

● Inject hepatitis B 0.5 mL IM and BCG 0.05 mL ID
● Cord care
Care prior to discharge

● Advise on staying in the facility

● Support unrestricted, on demand breastfeeding, day and night
● Ensure warmth of the baby
● Washing and bathing (hygiene)
● Sleeping
● Re-examine the baby before discharge
■ Look for danger signs
■ Look for signs of jaundice
■ Look for signs of local infection
● Discharge instructions
● Schedule postnatal contacts
 Care from Discharge to 6 weeks
Support unrestricted, on demand, exclusive breastfeeding (day and night)

● All babies, whether term or preterm, whether LBW or not, whether in high-, middle- or low- resource settings should be
exclusively breastfed from birth until 6 months of life.
● Counsel all mothers and provide support for exclusive breastfeeding at each postnatal contact. Provide intensive support
for exclusive breastfeeding for mothers who deliver by caesarean section or prematurely.
● Ask the mother exactly what the baby fed on in the past 24 hours before the visit.
● Ask about water, vitamins, local foods and liquids, formula, and use of bottles and pacifiers. Ask about stooling and wet
diapers.
● Praise any mother who is breastfeeding and encourage her to continue exclusive breastfeeding.
Explain that exclusive breastfeeding is the only food that protects her baby against serious illness.
Define that exclusive breastfeeding means no other food or water except for breast milk.
● Reassure the mother that she has enough breast milk for her baby’s needs.
Advise the mother to:

» keep the baby in the room with her, on her bed or within easy reach; and

» exclusively breastfeed on demand,day and night (>8 times in 24 hours, except in the rst day of life when the
baby sleeps a lot).

` Observe a breastfeed, if possible. Ensure mother knows about good position and good attachment.

` Ask the mother to alert you if she has breastfeeding difficulty, pain or fever.

` Observe, treat and advise if nipple(s) is/are sore or ssured, and the baby is not well attached. In addition to the
above
» reassess after two feeds (within the same day);
» advise the mother to smear breast milk over the sore nipple(s) after a breastfeed;
 Support unrestricted, on demand, exclusive breastfeeding, day and night

In addition:

● – breastfeed more frequently;

● – reassess after two feeds (within the same day); and
● – if not better, teach and help the mother to express enough breast milk to relieve the discomfort.

● But, if painful, there is patchy redness and mother’s temperature is > 38 °C, treat and advise for
mastitis. In addition to the above:
● » give cloxacillin 500 mg every 6 hours for 10 days;
● » give paracetamol,if severe pain;
● » reassess in 2 days; and
● » refer to a hospital,if no improvement or worse.
● NOTES
● * DO NOT give sugar water, formula or other liquids.
● * DO NOT give bottles or paci ers.
 Ensure warmth for the baby
● Delay bathing until after 24 hours. If this is not possible due
to cultural reasons, delay for at least 6 hours. ● Look for danger signs and refer for further evaluation
if the baby has any of the following:
● Explain to the mother that babies need an additional 1–2 ➔ Stopped feeding well;
layers of clothing for ambient temperature compared to older ➔ Convulsions;
children or adults. Bonnets or caps are recommended. ➔ Fast breathing (breathing rate ≥60 per
● Keep the room or part of the room warm, especially in a cold minute);
climate. ➔ Severe chest in-drawing;
● Do not separate the mother and baby. Keep them together in
➔ No spontaneous movement;
a room, both night and day. Instruct the mother to:
➔ Fever / high body temperature (>37.5°C);
❏ dress or wrap the baby up during the day; and
❏ Let the baby sleep with her or within easy reach, to
➔ Low body temperature (<35.5°C);
facilitate breastfeeding at night. ➔ Any jaundice in rst 24 hours of life; or
➔ Yellow palms and soles at any age.
NOTES
★ DO NOT put the baby on any cold or wet surface.
★ DO NOT swaddle/wrap the baby too tightly.
★ DO NOT leave the baby in direct sunlight.
★ Ensure additional warmth for the small baby.
 At each subsequent postnatal contact, ask about
the mother’s general well-being and symptoms
suggestive of complications including:
Assess all postpartum mothers regularly for:
● Excessive bleeding,
● Headache,
● Vaginal bleeding, ● Fits,
● Uterine contraction, ● Fever,
● Fundal height, ● Feeling very weak,
● Temperature, ● Breathing difficulties,
● ● Foul-smelling discharge,
Heart (pulse) rate, and
● Painful urination, and
● Anaemia. ● Severe abdominal or perineal pain.
 Newborn Resuscitation
If baby is gasping or not breathing after thorough drying and stimulation (for as close as possible to 30
seconds):

● Call for help and explain gently to the mother that her baby needs help to breathe.
● Clamp and cut the cord immediately to allow effective ventilation to be performed.
● Transfer the baby to the resuscitation area (a dry, clean and warm surface).
● Keep the baby wrapped or under a heat source, if available.
● Consider immediate referral at any point, where feasible.
Open airway, clear airway only if it is blocked
Position the head so it is slightly extended.

Only if the mouth/nose are blocked, introduce the suction/tube:

● first,into the baby’s mouth 5 cm from the lips and suck while with drawing;
● second, 3 cm into each nostril and suck while with drawing;
● repeat once, if necessary, taking no more than a total of 20 seconds; and
● do tracheal suctioning, where feasible.
 Ventilate, if still not breathing
Start bag/mask ventilation within one minute after birth:
-for babies <32 weeks,it is preferable to start with 30%
oxygen, where feasible.
Place mask to cover chin, mouth and nose to achieve
a seal. DO NOT cover the eyes.
Squeeze bag attached to the mask with two
fingers or whole hand, according to bag size, 2–
3 times. Observe rise of chest.
If chest is not rising:
● first, reposition the baby’s head.
If chest is still not rising:
● check for adequate mask seal.
If chest is still not rising:
● squeezebagharder.
If chest is rising:
● ventilate at 40 breaths per minute until
baby starts crying or breathing.
Neonatal self-inflating resuscitation bag with
round mask
Fitting mask over face

Ventilating a neonate with bag and mask Inadequate Seal

Setting up the environment for good neonatal care
Preparing for shifts - Prepare workplace for deliveries

After every delivery - Restock delivery area

Standard precautions - General standard precautions and cleanliness

Standard precautions
● Decontamination
● Cleaning
● High-level disinfection (HLD) by boiling
● HLD by steaming
● Sterilization by steaming (autoclave)
● Store or use
Breastfeeding
 The American Academy of Pediatrics
(AAP) and World Health Organization (WHO)
have declared breastfeeding and the
administration of human milk to be the
normative practice for infant feeding and
nutrition.
Thus the decision to breastfeed
should be considered a public health issue
and not only a lifestyle choice.
The AAP and the WHO
recommend that infants should be exclusively
breastfed or given breast milk for 6 mo.
Breastfeeding should be continued with the
introduction of complementary foods for 1 yr or
longer, as mutually desired by mother and
infant.
 Feedings should be initiated soon
after birth unless medical conditions
preclude them. Mothers should be
encouraged to nurse at each breast
at each feeding starting with the breast
offered second at the last feeding.
It is not unusual for an infant to fall
asleep after the 1st breast and refuse the
2nd. It is preferable to empty the 1st breast
before offering the 2nd to allow complete
emptying of both breasts and therefore
better milk production.
Nipple Pain
Nipple pain is one of the most
common complaints of breastfeeding
mothers in the immediate postpartum
period. Poor infant positioning and improper
latch are the most common reasons for
nipple pain beyond the mild discomfort felt
early in breastfeeding.
If the problem persists and the
infant refuses to feed, evaluation for nipple
candidiasis is indicated. If candidiasis is
present, the mother should be treated with
an antifungal cream that is wiped off of the
breast before feeding, and the infant treated
with an oral antifungal medication.
Tongue-tie (ankyloglossia)
Associated with nipple pain,
poor latching, and poor weight gain in
breastfed and bottle-fed infants.

Treatment:
Frenotomy
Minor surgical procedure with few
complications and has been suggested as a
treatment option for ankyloglossia.
Lactation consultants often recommend
frenotomy, whereas pediatricians provide
lactation management approaches and wait
at least 2-3 wk before considering frenotomy
Engorgement
In the 2nd stage of lactogenesis,
physiologic fullness of the breast occurs.
Breasts may become engorged: firm,
overfilled, and painful as the pattern and
volume of milk production adjusts to the
infant’s feeding schedule.
Incomplete removal of milk as a
result of poor breastfeeding technique or
infant illness can cause engorgement.
Breastfeeding immediately at
signs of infant hunger will eventually
prevent this from occurring.
Treatment:

To reduce engorgement, breasts

should be softened before infant feeding
with a combination of hot compresses and
expression of milk.
To reduce inflammation and pain,
between feedings a supportive bra should
be worn, cold compresses applied, and
oral nonsteroidal antiinflammatory
drugs (NSAIDs) administered.
Mastitis
Occurs in 2–3% of lactating women
and is usually unilateral.

Signs and Symptoms:

● Localized warmth
● Tenderness
● Edema
● Erythema after the 2nd postdelivery
week. Breast pain (sudden onset)
● myalgia
● fever with fatigue
● Nausea
● Vomiting
● Headache
Organisms implicated in Mastitis include:

● Staphylococcus aureus
● Escherichia coli
● Group A streptococcus
● Haemophilus influenzae
● Klebsiella pneumoniae
● Bacteroides species.

Diagnosis is confirmed by physical

examination. Oral antibiotics and analgesics,
while promoting breastfeeding or emptying of
the affected breast, usually resolve the
infection.
Breast Abscess
Less common complication of
mastitis, but it is a more serious
infection that requires intravenous
antibiotics and incision and drainage,
along with temporary cessation of
feeding from that breast.
Inadequate Milk Intake
Insufficient milk intake,
dehydration, and jaundice in the infant can
occur within the 1st week of life.

Signs:
● Lethargy
● Delayed stooling
● Decreased urine output
● Weight loss >7–10% of birth weight
● Hypernatremic dehydration
● Inconsolable crying
● Increased hunger.
● Parents should be counseled that breastfed neonates feed 8-12 times/day with a
minimum of 8 times/day.
● Careful attention to prenatal history can identify maternal factors associated
with this problem (failure of breasts to enlarge during pregnancy or within the
1st few days after delivery).
● Direct observation of breastfeeding can help identify improper technique.
● If a large volume of milk is expressed manually after breastfeeding, the infant
might not be extracting enough milk, eventually leading to decreased milk
output.
● Late preterm infants (34-36 wk) are at risk for insufficient milk syndrome
because of poor suck and swallow patterns or medical issues.
 Breastfeeding jaundice
is related to insufficient fluid intake during the 1st week of life and is a common reason for hospital readmission of healthy breastfed
infants.

is associated with dehydration and hypernatremia.

is a different disorder that causes persistently high serum indirect bilirubin in thriving healthy well-fed infants.

Breast milk contains inhibitors of glucuronyl transferase and causes enhanced absorption of bilirubin from the gut. Breast milk
jaundice becomes evident later than breastfeeding jaundice and generally declines in the 2nd to 3rd wk of life. Infants with severe or
persistent jaundice should be evaluated for other medical causes.

Persistently high bilirubin levels may require changing from breast milk to infant formula for 24-48 hr and/or treatment with
phototherapy without cessation of breastfeeding. Breastfeeding should resume after the decline in serum bilirubin. Parents should be
reassured and encouraged to continue collecting breast milk during the period the infant is taking formula.
 Breast Milk Collection
The pumping of breast milk is a common practice when the mother and baby
are separated. Good handwashing and hygiene should be emphasized.

Electric breast pumps are generally more efficient and better tolerated by
mothers than mechanical pumps or manual expression.

Collection kits should be cleaned with hot soapy water, rinsed, and air-dried
after each use. Glass or plastic containers should be used to collect the milk,
and milk should be refrigerated and then used within 48 hr. Expressed breast
milk can be frozen and used for up to 6 mo.

Milk should be thawed rapidly by holding under running tepid water and used
completely within 24 hr after thawing. Milk should never be microwaved.
Growth of the Breastfed Infant
The rate of weight gain of the breastfed infant differs from that of the formula-fed infant; the infant’s risk for excess weight gain
during late infancy may be associated with bottle feeding.

The WHO growth charts

Growth of healthy breastfed infants through the 1st year of life. These standards are the result of a study in which >8,000 children were
selected from 6 countries. The infants were selected based on being breastfed, having good health care, high socioeconomic status,
and nonsmoking mothers, so that they reflect the growth pattern of breastfed infants in optimal conditions and can be used as
prescriptive rather than normative curves.

Charts are available for growth monitoring. The U.S. Centers for Disease Control and Prevention (CDC) recommend use of the WHO
growth charts for infants 0-23 mo of age and CDC growth charts for ages 24 mo to 20 yrs.
Formula Feeding
COW’S MILK PROTEIN–BASED
FORMULAS
cow’s milk protein–based formulas in the United States contain a protein concentration varying from 1.8-3 g/100 kcal (or 1.4-1.8 g/dL),
considerably higher than in mature breast milk (1.2-1.3 g/100 kcal; 0.9-1.0 g/dL).

In contrast, breast milk content varies over time to match protein needs at various ages. The whey:casein ratio varies in infant formula
from 18 : 82 to 60 : 40; one manufacturer markets a formula that is 100% whey.
Lactose is the major carbohydrate in breast milk and in standard

cow’s milk–based formulas for term infants. Formulas for term infants

may also contain modified starch or other complex carbohydrates.

Carbohydrates constitute 67-75 g/L of cow’s milk–based formula.

 SOY FORMULAS
● All free of cow’s milk–based protein and lactose
● Supplemented with L-methionine, L-carnitine, and taurine to provide a
protein content of 2.45-2.8 g/100 kcal, or 1.7-1.9 g/dL.
● Soy, palm, sunflower, olein, safflower, and coconut. DHA and ARA are
also added.
● Indications for soy formula include galactosemia, preference for a
vegetarian diet, and hereditary lactase deficiency.
● Not recommended for preterm infants.
● Soy formulas contain phytoestrogens
 PROTEIN HYDROLYSATE FORMULAS

● Partially hydrolyzed, containing oligopeptides

● Have fat blends similar to cow’s milk–based formulas, and
carbohydrates are supplied by corn maltodextrin or corn syrup
solids
● Should not be fed to infants who are allergic to cow’s milk
protein
● Fed to infants who are allergic to cow’s milk protein. In studies
of formula-fed infants who are at high risk of developing atopic
disease, there is modest evidence that childhood atopic
dermatitis may be delayed or prevented by the use of
extensively or partially hydrolyzed formulas, compared with
cow’s milk–based formula.
● useful in infants with gastrointestinal malabsorption as a
consequence of cystic fibrosis, short gut syndrome, prolonged
diarrhea, and hepatobiliary disease.
 AMINO ACID FORMULAS
● Are peptide-free formulas that contain mixtures
of essential and nonessential amino acids.
● Designed for infants with cow’s milk based
protein allergy who failed to thrive on
extensively hydrolyzed protein formulas.
● The effectiveness of amino acid formulas to
prevent atopic disease has not been studied.
MILK AND OTHER FLUIDS IN INFANTS
AND TODDLERS
● Neither breastfed nor formula-fed infants require additional water unless dictated by a specific condition involving excess water
loss, such as diabetes insipidus.
● Vomiting and spitting up are common in infants.
● When weight gain and general well-being are noted
● Whole cow’s milk should not be introduced until 12 mo of age.
● Children 12-24 mo of age for whom overweight or obesity is a concern or who have a family history of obesity, dyslipidemia, or
cardiovascular disease, the use of reduced-fat milk is appropriate.
● Whole milk is recommended until age 24 mo, changing to 1% milk at 24 mo for healthy children. Regardless of the type, all
animal milk consumed should be pasteurized.
● Infants and young children are particularly susceptible to infections such as E. coli, Campylobacter, and Salmonella found in raw
or unpasteurized milk.
● Goat’s milk is sometimes given in place of formula, although this is not recommended. Goat’s milk has been shown to cause
significant electrolyte disturbances and anemia because it has low folic acid concentrations.
● Nondairy alternatives to milk from plant-based (e.g., soy, hemp, pea, rice) and nut-based (e.g., almond, cashew, peanut) sources
have become popular.
● When counseling parents, it is important to emphasize that the overall nutritional content of
plant-based milk alternatives is not equivalent to cow’s milk.
● Although most are fortified with vitamin D and calcium, with the exception of some soy-,
hemp-, and pea-based milk alternatives, most products have a lower protein content.
● Plant-based products such as soy and rice milk tend to have added oils and sugars, giving
them a higher energy content than cow’s milk. Secondary to a lower protein content, these
alternative milks should not be given to infants.
● Nut-based milks may be suitable to toddlers ≥24 mo of age without allergies who have an
otherwise adequate diet.
NEWBORN SCREENING
RA 9288: a public health program aimed at the early identification of infants who are affected by
certain genetic/ metabolic/ infectious conditions that may lead to mental retardation and death if
left untreated

- Heel prick method: few drops of blood taken from the baby’s heel and blotted on a special
absorbent filter card, air dried for 4 hours then sent for screening

Well- appearing newborns: interval between assessment is 4 hours during the first 2-3 days of life
and 8 hours thereafter

- Temperature: taken by axillary measurement with a normal range of 36.5-37.4°C (97.7-

99.3°F)
- Weighing at birth and daily thereafter is sufficient
- Eyes: protected against gonococcal ophthalmia neonatorum by application of a 1 cm
ribbon of erythromycin (0.5%) tetracycline (1.0%) sterile ophthalmic ointments, or
1% silver nitrate solution in each lower conjunctival sac
- an intramuscular injection of 0.5-1 mg of water-soluble vitamin K 1 (phytonadione)
should be given to all infants shortly after birth
- Hepatitis B immunization before discharge from the nursery is recommended for
newborns with weight >2 kg
- Hearing impairment: for early detection of hearing loss and appropriate timely
intervention
- Pulse oximetry provides early detection of ductal dependent cyanotic congenital
heart disease
- Hyperbilirubinemia should include risk assessment in all infants with
measurement of serum or transcutaneous bilirubin levels before hospital
discharge
- Hypoglycemia screening should be performed in infants who are small or large
for gestational age, born to mothers with diabetes, preterm, symptomatic
- Suspected chorioamnionitis, screening for sepsis by blood culture and at least
48 hour broad spectrum antibiotic therapy
- Congenital hip dysplasia can be screened by

Ortolani test
Barlow test
The most commonly identified disorders include:

- Hypothyroidism
- Cystic fibrosis
- Hemoglobinopathies
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Galactosemia
- Phenylketonuria
- Adrenal Hyperplasia
Congenital Hypothyroidism

Causes:

1. Defective development of the thyroid

2. Development of the thyroid in an abnormal location
3. Maternal intake of anti-thyroid medication or excess iodine
4. An inherent defect in manufacturing the thyroid hormones
Congenital Hypothyroidism

Clinical manifestations:

- Jaundice
- Poor muscle tone
- Low body temperature
- Long protruding tongue
- Large anterior fontanelle
- Umbilical hernia
Congenital Hypothyroidism

Goals of treatment:

1. Maintain T4 levels above normal range

2. Maintain TSH level within normal range
3. Avoid overtreatment
4. Provide psychological support to the family

Management:

- L-thyroxine for babies with CH

- Do not give soy-based formulas and iron supplements
Galactosemia

- An inherited disorder that lacks an enzyme galactose-1-phosphate-uridyl

transferase or GAL-1-PUT, which helps the body break down galactose.
Galactosemia

Management:

- Use galactose-free milk products

- Galactose restricted diet
Phenylketonuria

- An autosomal recessive metabolic disorder in which the body cannot

properly use phenylalanine, an essential amino acid that converts into
tyrosine causing elevation of phenylalanine in the blood.
- Phenylalanine is neurotoxic
- Excessive accumulation of phenylalanine can causes brain damage
- Phenylalanine hydroxylase (PAH) is either missing of not working properly.
- Screening: Guthrie test
Phenylketonuria

Clinical manifestations: Management:

- Severe intellectual impairment - Protein diet restriction
- Microcephaly
- Eczema
- Seizures
- Hypopigmentation
- Hyperactivity
- Autistic behavior
G6PD Deficiency

- Is an inherited disorder in which the body lacks the enzyme glucose-6-

phosphate-dehydrogenase which helps RBC’s function properly.
- It can cause hemolytic anemia
- Affects males almost exclusively and is transmitted by the mother only to
son or daughter who will become another carrier.
G6PD

- One of the enzymes that help the body process carbohydrates and turn them
into energy.
- Also protects RBC’s by harmful byproducts that can accumulate when a
person takes certain medications or when the body is fighting an infection.
Management

- Limit exposure to triggers

- Folic acid
- Phototherapy
Maple Syrup Urine Disease

- Is an autosomal recessive metabolic disorder

affecting branched-chain amino acids.
- Is a potentially deadly disorder that affects
the way the body breaks 3 amino acids,
leucine, isoleucine, and valine.
- High levels of these amino acids in the blood
causes rapid degeneration of brain cells and
death if left untreated.
- Chromosome 19 mutation = most common
Symptoms:

Babies with MSUD appear normal at birth but after 3-4 days, signs and
symptoms begin to appear:

- Loss of appetite
- Fussiness
- Sweet smelling urine
Management:

- Diet restriction of the 3 amino acids

- Special formula without the 3 amino acids
- Avoid high protein foods