Galactosemia
Galactosemia is an inborn error of metabolism
inherited as autosomal recessive trait. It is due to deficiency of
galactose-1-phosphate uridyl transferase enzyme.
Clinical picture
● Typical symptoms
of galactosomia in the newborn develop after ingestion of lactose (that yields
glucose and galactose) through breast milk or formula.
● Jaundice,
hepatosplenomegaly, feeding difficulty, vomiting, hypoglycemia, lethargy,
irritability, seizures, cataract and increased risk of E-coli neonatal sepsis.
● Delayed
diagnosis result in liver cirrhosis and mental retardation.
Laboratory findings
- Preliminary
diagnosis is made by demonstrating of non-glucose reducing substance in urine.
- Confirmatory
diagnosis by estimating serum level of galactose -1- phosphate uridyl
transferase enzyme.
Management
By giving the infant lactose free formula, then
later a full galactose free diet.
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