A 2 month old infant presented with hepatic crisis, peripheral neuropathy & fanconi like syndrome. Lab investigations showed elevated transaminase, low coagulation factors and elevated succinyl acetone in serum & urine. The most likely diagnosis :
A 2 month old infant presented with hepatic crisis, peripheral neuropathy & fanconi like syndrome. Lab investigations showed elevated transaminase, low coagulation factors and elevated succinyl acetone in serum & urine. The most likely diagnosis :
💡 Explanation
A 2 month old infant presented with hepatic crisis, peripheral neuropathy & fanconi like syndrome. Lab investigations showed elevated transaminase, low coagulation factors and elevated succinyl acetone in serum & urine. The most likely diagnosis :
✓ Correct Answer: C. Tyrosinemia
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