4/21/2022

Pediatrics
Formula Feeding

Indications of Formula Feeding

 CI of breast feeding

 Most importantly: in-born metabolic anomalies

 Galactosemia

 Phenylketonuria

 Maple syrup urine disease

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Galactosemia

 It is an autosomal recessive
genetic disorder
 Occurs in 1 out of every 60,000
births
 There are three forms of the disease:
– Galactose-1 phosphate uridyl
transferase deficiency (classic
galactosemia, the most common and
most severe form; Type-1)
– Deficiency of galactokinase; Type-2
– Deficiency of galactose-6-phosphate
epimerase; type-3

Pathophysiology

 Lactose, the sugar found in milk is digested equally to [1/2 Galactose + 1/2
glucose]
 Infants with galactosemia are unable to fully break down the simple sugar
galactose.
 When they are given milk:
 galactose and its metabolite galactose-1-phosphate (gal-1-P) accumulate [toxic
levels] in the infant's body causing damage for ! liver, brain, kidneys, and eyes .
 Persons with galactosemia cannot tolerate any form of milk (human or
animal).

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Investigations

 Level of galactose and gal-1-P in the blood spot.

 galactose-1-phosphate uridyl transferase (GALT) activity.
 Amino acid in urine and plasma
 Liver functions
 Blood sugar

Clinical Picture
 Convulsions
 Irritability
 Tremors
 Lethargy
 Poor feeding (baby refuses to eat formula containing milk)
 Poor weight gain
 Jaundice
 Vomiting
 Hepatomegaly
 Ascites
 Hypoglycemia
 Infants can develop symptoms in the first few days of life if they eat formula or
breast milk that contains lactose.

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Possible Complications

 Cataracts [may be due to ppt in lenses]

 Cirrhosis
 Death (if there is galactose in the diet)
 Delayed speech development
 Irregular menstrual periods, reduced function of ovaries leading to ovarian
failure
 Mental retardation

Prognosis

 Early diagnosis and milk avoidance = good prognosis

 People who get an early diagnosis and strictly avoid milk products can live
a relatively normal life. However,

 mild intellectual impairment may develop, even in people who avoid

galactose. Galactose is present in many fruits and vegetables, thus a
completely galactose free diet is not possible

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Acute sever phase

 Symptoms (feeding intolerance and weight loss) and signs (dehydration,

jaundice, hepatomegaly, sepsis or hypoglycemia) should be taken very
seriously.
 Blood Transfusion may be necessary to reverse the toxic effects in a
severely affected infant.
 Immediate institution of a lactose free diet (Isomil, Prosobee, Nutramigen or
Lactofree) can reverse ! acute neonatal symptoms & prevent many of the
complecation sequelae (mental retardation, irreversible cataracts, and
liver disease).
 Clearance of galactose and gal-1-P from the circulation is slow. Thus the
infant continues to be at risk for the acute symptoms for up to 7 days post
dietary change.

Phenylketonuria

 It is an autosomal recessive genetic disorder characterized by a deficiency

in the hepatic enzyme phenylalanine hydroxylase (PAH)
 This enzyme is necessary to metabolize the amino acid phenylalanine to
the amino acid tyrosine.
 When PAH is deficient, phenylalanine accumulates and is converted into
phenylpyruvate, phenylacetate, phenethylamine kn as phenylketones
which is detected in the urine.
 If the condition is left untreated, PA and phenylketones accumulates [toxic
levels] causing brain damage [progressive mental retardation & seizures].

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Management

 Diet control to avoid foods with PTU, usually high-protein foods

 Milk and cheese

 Fish, pork, and steak and other beef products

 Chicken and eggs

 Nuts, soybeans, and beans

 Peas

 Chocolate candy

 Foods with the artificial sweetener aspartame

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Management

 Sapropterin: Synthetic cofactor BH4 (tetrahydrobiopterin). BH4 activates

phenylalanine hydroxylase, which breaks down PTU.
 a) For children 7 months and older, initiate trial dose at 10 mg/kg/dose once
daily for 1 month. If serum concentrations have not decreased, may try an
additional month at increased dose of 20 mg/ kg/dose once daily. Lack of
response to this increase identifies patient as a nonresponder.
 b) If positive response, begin maintenance dosing of 5–20 mg/kg/dose once
daily and adjust to lowest effective dose
 c) Administer with food. Dissolve tablets in water or apple juice, or they can
be mixed with pudding, applesauce, or formula.
 d) Monitoring: PTU serum concentrations at baseline, after 1 week of
treatment, periodically for first month, after dosage changes, and periodically
thereafter (< 4 mg/dL)

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Management

 Avoid medications containing PTU:

 Many over-the-counter cough/cold preparations and
analgesics
 Certain prescription-only suspensions, chewable tablets, and
orally disintegrating tablets
 Use caution when recommending products.
 May necessitate selecting alternative agent, or if no alternative,
diet may require adjustment

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Notes

 Phenylalanine is necessary for the synthesis of many proteins; it is required

for appropriate growth, but levels must be strictly controlled in PKU
patients).
 In addition, tyrosine, which is normally derived from phenylalanine, must be
supplemented.
 The oral administration of tetrahydrobiopterin (BH4) (a cofactor for the
oxidation of phenylalanine) can reduce blood levels of this amino acid in
certain patients [Kuvan tablet; BioMarin Pharmaceutical]
 BH4 is effective in ½ of PKU population, lower phenylalanine levels to
recommended ranges

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Maple syrup urine disease

 Also called branched-chain ketoaciduria.

 An autosomal recessive metabolic disorder caused by a deficiency

of the branched-chain alpha-keto acid dehydrogenase complex,

leading to a build-up of the branched-chain amino acids (leucine,

isoleucine, and valine) and their toxic by-products in the blood

[organic acidemia]and urine. Resulting in brain damage

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Maple Syrup Urine Disease

 Infants with this disease seem healthy at birth but if left untreated
suffer severe brain damage, and eventually die.

 From early infancy, symptoms and signs of the condition include

poor feeding, vomiting, dehydration, lethargy, hypotonia, seizures,
ketoacidosis, pancreatitis, coma and neurological decline.

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Management

 A diet with minimal levels of the amino acids leucine,

isoleucine, and valine must be maintained in order to

prevent neurological damage

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Row Animal Milk

 Not advisable for those < 1 years old

 Allergenic
 Rachitogenic (low in vitamin D content)
 Can be modified through humanization and pasteurization

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Humanized milk

 Composition modified to resemble human milk, for infant feeding.

 Reduction of protein content through dilution with water and carbohydrate
(usually table sugar).

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Pasteurized Milk

 Reduction of bacterial counts

 More digestible casein

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Evaporated and Condensed Milk

 They are prepared by partial evaporation of animal milk under vacuum ±

sweetening.
 Advantages:
 Casein is altered to a fine crud.
 Fat is homogenized into small fat globules.
 Sterile.

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Powdered Milks

 Spray dried (mostly cows) milk

 Advantages over the other artificial feeding types:
 Sterile
 Easy storage
 small fat globules
 Casein is altered into fine crud.
 Constant composition
 Can be fortified
 Specific types for specific indications.

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Types of powdered milk

 Humanized powdered milk

 Lactose free milk
 Soya based milks (vegetable milks): requires Ca supplementation
 Phenyl alanine free milk
 Low-Sodium milk
 Premature Formulae (more calories, Ca, P, vitamins, and minerals)
 Pre-digested milk: Malabsorption, short bowel syndrome, intractable
diarrhea, protein loosing enteropathy, crohns’ disease.

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