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: Tyrosinemia
Description: Tyrosine is derived from ingested proteins or is synthesized endogenously from phenylalanine. It is used for protein synthesis and is a precursor of dopamine, norepinephrine, epinephrine, melanin, and thyroxine. Tyrosinemia type I or Hereditary tyrosinemia or Hepatorenal tyrosinemia Caused by a deficiency of the enzyme fumarylacetoacetate hydrolase. Hepatic disease, peripheral neuropathy and renal involvement are hallmark of disease. The presence of elevated levels of succinylacetone in serum and urine is diagnostic
Category:
Pediatrics
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