Expert Opinion :
One most important test that is required is Urine for reducing substances to rule out galactosemia which is a preventable cause of liver cell failure. In this child urine reducing substance was positive and urine organic acids showed presence of galactitol & galactonate by urine chromatography (MILS method). Thus she was diagnosed as Galactosemia and started on galactose free diet (soya milk) with supplementation of Vitamin E, K, A, C and Ureodeoxycholic acid.
Galactosemia is a disorder of galactose metabolism. Three inherited disorders of galactose metabolism have been described. They are all transmitted by autosomal recessive inheritance. The clinical manifestations in infants are due to toxic effects of prolonged exposure to galactose. Jaundice presents in a few weeks and is initially unconjugated. Untreated it may progress to liver disease and cirrhosis. Ascitis may be a prominent early finding. Histopathology of liver reveals fatty infiltration and inflammatory changes at an early stage. As the disease progresses, bile stasis, pseudoacinar formation and partial fibrosis is seen eventually leading to cirrhosis. Cataracts can be observed within a few days of birth. Mental retardation becomes apparent after several months of life. There is a high frequency of neonatal death due to E.coli sepsis. Preliminary diagnosis is demonstrated by presence of reducing substance in urine while patient is receiving milk-containing lactose. The reducing substance can be identified by chromatography or by an enzymatic test specific for galactose. The mainstay of therapy is lactose free diet as failure to eliminate galactose results in progressive liver failure and death. In infants with manifestations of toxicity, the galactose free diet results in regression of all symptoms and signs – nausea & vomiting cease, weight gain ensues, liver abnormalities clear, galactosuria & albuminuria clear, and cataracts regress. In infants soy milk is beneficial. Milk restriction is to be maintained life-long.