Q. Show Clinical symptoms of galactosemia?

Clinical symptoms of galactosemia deficiency is found to appear early in infancy. Some infants are born with cataract, jaundice and cirrhosis. The reason may be due to maternal ingestion of lactose. In untreated patients, development of hepatomegaly is very common. Liver is damaged leading to decreased synthesis of prothrombin and albumin. Glomeruli and tubules of the kidney are affected due to the accumulation of galactose and its metabolites. In addition, active tubular transport is impaired because of deficient ATP. Aminoaciduria occurs. Decreased albumin synthesis, proteinuria, ascites and generalized oedema are seen. Without treatment death usually results. Even if the untreated patients survive, there is retardation of physical and mental growth.