What is homocystinuria?

Updated: Jul 27, 2018
  • Author: Pitchaiah Mandava, MD, PhD; Chief Editor: Helmi L Lutsep, MD  more...
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Answer

Answer

Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites (homocystine, homocysteine-cysteine complex, and others) in blood and urine. Normally, these metabolites are not found in appreciable quantities in blood or urine.

Homocystinuria is an autosomal recessively inherited defect in the transsulfuration pathway (homocystinuria I) or methylation pathway (homocystinuria II and III).


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