出典:Wiktionary
出典:『Wiktionary』 (2012/03/23 03:12 UTC 版)
homocystinuria (countable かつ uncountable; 複数形 homocystinurias)
出典:Wikipedia
出典:『Wikipedia』 (2011/04/02 06:56 UTC 版)
Homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of the metabolism of the amino acid methionine, 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.