Homocystinuria overview
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Homocystinuria Microchapters |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]
Overview
Homocystinuria, also known as cystathionine beta synthase deficiency, is an inherited disorder of the metabolism of the amino acidmethionine, often involving cystathionine beta synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit the defective gene from both parents to be affected.