Diagnostic Dilemma

Bilateral cataracts

A 3-year-old male child born of non-consanguineous marriage presented with bilateral cataracts for 10 months. Birth history and milestones were normal. There was no jaundice, failure to thrive, or dysmorphic features. On examination, apart from bilateral white reflex, other systems were normal. An investigation for urine-reducing substances was positive. Liver function, renal function, blood gases, calcium, phosphorus, alkaline phosphatase were normal.

What is the possible diagnosis?
Expert Opinion :
Since reducing substance was positive in urine, one must rule out galactosuria and galactosemia. Galactosemia is of 3 types. Type 1 and 3 are due to transferase and epimerase enzyme deficiency respectively and present with jaundice, hepatomegaly, hypoglycemia which may lead to seizures, failure to thrive, and acidosis, and cataracts. Type 2 galactosemia (Galactokinase deficiency) leads to cataracts without any other systemic manifestation. Thus in this child galactosemia type, 2 is a possibility. Enzyme estimation of Galactokinase showed low levels.
Answer Discussion :
Mwinamuzhi Matemate
9 months ago
Mtahir Farid
9 months ago

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