A 3 day child vomits everything he feeds, has a distended abdomen & diarrhoea. The urine is positive for benedicts test for reducing substance. The substance in urine is - (AIIMS Nov l0)
Characteristic symptom i.e., vomiting, distended abdomen and diarrhea along with the presence of reducing substance in the urine suggests the diagnosis of galactosemia
a. Galactosemia is a group of metabolic disorders which occurs due to defect in metabolism of galactose.
b. There is inability to metabolise galactose which may be caused by deficiency of any of the following enzymes:
i. Galactose- 1 -phosphate uridyl transferase (most common)
c. The defect in galactose metabolism results in accumulation of galactose-l-phosphate and galactical that are thought to have direct toxic effect on the liver and other organs.
d. Clinical features
e. Infant appears normal at birth, however, becomes symptomatic a few days to weeks after initiating galactose containing feeds.
f. Due to accumulation of galacticol, damage to nerve tissue and liver occurs which causes:-
Hepatic parenchymal disease- jaundice, hepatomegaly and ascites
Mental retardation Cataract Seizures Hypoglycemia
Vitreous hemorrhage Acidosis Splenomegaly
g. The accompanying GI symptoms are poor feedings, vomiting and diarrhoea"
h. Fanconi syndrome (Aminoacidiuria, proteinuria, phosphaturia) may occur.
a. Urine shows reducing sugar which can be detected by
i. Benedicts reagent
ii. Glucose oxidase method
b. The confirmatory diagnosis is made by the enzyme assay.