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.
