An 8 days old child presents with yellow selera, whitish stool and turmeric colour urine on 3rd day of septicemia on broad spectrum antiboitics, the likely diagnosis is: (A) Galactosidase deficiency, (B) Ammonia toxicity, (C) Galactose 1-4 phosphatase uridyl transferase deficiency, (D) All
Answer is C. Ans. is 'c' i.e., Galactose 1-4 phosphatase uridyl transferase deficiency o Feature of conjugated bilirubinemia on the 3rd day accompanied by sepsis in a neonate suggests diagnosis of Galactosemia. o Due to accumulation of galacticol, damage to nerve tissue and liver occurs which cause. Hepatic parenchymal disease- jaundice, hepatomegaly and ascites Mental retardation Cataract Seizures Hypoglycemia Vitreous hemorrhage Acidosis Splenomegaly o Fanconi syndrome --> Aminoaciduria, proteinuria and phosphaturia. o The symptoms of the severe from of the disease are similar to the symptoms of the patient child in the Question -3 Jaundice, hepatomegaly vomiting and septicemia (due to E. coli).