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
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).
Galactosidase deficiency
Ammonia toxicity
Galactose 1-4 phosphatase uridyl transferase deficiency
All