DISEASES

Disease-gene associations mined from literature

Human genes for homocystinuria

Homocystinuria [DOID:9263]

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 a copy of the defective gene from each parent to be affected.

Synonyms:  homocystinuria,  DOID:9263,  CBS deficiency,  Homocystinuria (disorder),  cystathionine beta synthase deficiency ...

Linkouts:  OMIM #1 #2 #3 #4