You are on page 1of 28

NUTRITION OF CHILDREN

WITH INBORN ERRORS OF


METABOLISM
Moza Lootah U00034542

What Are Inborn Metabolic


Errors?

Definition:
Inborn errors of metabolism are rare
genetic disorders in which the body
cannot properly turn food into energy.
The disorders are usually caused by
defects in specific proteins (enzymes)
that help break down (metabolize) parts
www.nlm.nih.gov/medlineplus/ency/article/002438.htm
of
food.

Classifications

Signs and Symptoms

PKU

PKU symptoms can be mild or severe and may include:

Intellectual disability (formerly called mental retardation)

Delayed development

Psychiatric disorders

Hyperactivity

Poor bone strength

Skin rashes (eczema)

Abnormally small head (microcephaly)

Galactosemia

Early symptoms may include:

Yellowing of the skin and whites of the eyes

Vomiting

Poor weight gain

Feeding difficulties

Irritability

Galactosemia

If left untreated, later symptoms and complications


may include:

Enlarged liver, enlarged spleen

Intellectual disability

Liver failure

Kidney problems

Swelling of the extremities or abdomen

Hereditary Fructose Intolerance

Lethargy (lack of energy)

Vomiting

Diarrhea

Abdominal pain

Hypoglycemia (low blood sugar)

Poor growth

Maple Syrup Urine Disorder:

Poor appetite

Trouble sucking during feeding

Weight loss

High pitched cry

Sleeping longer or more often

Tiredness

Irritability

Vomiting

Developmental delays

Diagnosis

Clinical Manifestations

Treatment

Urea cycle treatment

Chronic

-restrict precursor
-supplemet end product
-give alternative substrate for
metabolism
-supplement of vitamins + other cofactor
nutrients

Treatment

June 30 2015

Mineralandvitamincontentofsomesemisyntheticproducts.
(syrupsolids,cornoil,vitamins,andminerals)areusedto
supplynonproteinnutrienttotheinfantsandchildren.(in
excesscomparedtohumanmilk)

Lofenalac,MSUDAID

excessofthequantitiesconsumed
Ironispresentinexceptionalexcess(30x)
Somearecompletelymissing

Management and
Prevention

PKU

The aims of management are to maintain blood phenylalanine


concentration in the target range (100250 mol/L) before and
throughout the pregnancy.

Ensure adequate maternal nutrition and appropriate weight


gain.

Blood phenylalanine is monitored twice, three times a week,


before and after conception respectively.

Weight is monitored on a weekly basis and key micronutrients


are monitored every 68 weeks in clinic.

Dietary phenylalanine intake has to be promptly increased, as


phenylalanine tolerance increases rapidly.

Postnatal management includes a neurological assessment of


the infant at 48 weeks and an echocardiogram for infants
conceived off diet.

Galactosemia

Initial management:

A-galactose must be excluded from the diet.

Long term management:

Patients should be followed up


throughout childhood and adult life.

DIET:

Galactose must be excluded from the diet throughout life.

AlcoholThere is no evidence to support the hypothesis that


alcohol is more harmful to patients with galactosaemia than to the
normal population.

PregnancyGalactose ingestion by heterozygous pregnant women


has not been shown to have any adverse effect on the fetus. There
is no evidence for milk restriction in such women during pregnancy.

Many medications, particularly tablets, contain lactose, and this


should be checked before prescribing. However, in many cases, the
amounts of galactose (compared with endogenous production) are
insignificant, particularly if given for a short period.

Fructose Intolerance

Comprising avoidance of foods containing substantial free


fructose and short-chain fructans.

Maple syrup urine disorder

Prevention of primary manifestations:

Dietary management should allow age-appropriate tolerance of


leucine, isoleucine, and valine, and maintain stable plasma.

Use of a sick-day formula recipe ,combined with rapid and


frequent amino acid monitoring allows many catabolic illnesses
to be managed in the outpatient setting.

Pregnancy management:

For women with MSUD, metabolic control should be rigorously


maintained before and throughout pregnancy by frequent
monitoring of plasma amino acid concentrations and dietary
adjustments.

. Fetal growth should be monitored to detect any signs of


essential amino acid deficiency.