DISEASES

Disease-gene associations mined from literature

Human genes for homocystinuria

Homocystinuria [DOID:9263]

An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.

Synonyms:  homocystinuria,  DOID:9263,  CBS deficiency,  cystathionine beta synthase deficiency,  cystathionine synthase deficiency ...

Linkouts:  OMIM #1 #2 #3 #4