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Pediatrics General d8c23fc2

An 8 days old child presents with yellow sclera, whitish stool and turmeric colour urine on the 3rd day of septicemia on broad-spectrum antibiotics, the likely diagnosis is –

A
Galactosidase deficiency
B
Ammonia toxicity
C
Galactose 1–4 phosphatase uridyl transferase deficiency
D
Glucose 6 phosphatase deficiency
High-Yield Explanation
A feature of conjugated bilirubinemia on the 3rd day accompanied by sepsis in a neonate suggests diagnosis of Galactosemia. Due to the accumulation of galactitol; damage to nerve tissue and liver occurs which cause. Hepatic parenchymal disease- jaundice, hepatomegaly and ascites Mental retardation                                               Vitreous hemorrhage  Acidosis    Splenomegaly Cataract  Seizures Hypoglycemia     Fanconi syndrome → Aminoaciduria, proteinuria and phosphaturia. The symptoms of the severe from of the disease are similar to the symptoms of the patient child in the Question -i Jaundice, hepatomegaly vomiting and septicemia (due to E. coli).

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