Human genes for homocystinuria
Homocystinuria [DOID:9263]
An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
Synonyms: homocystinuria, DOID:9263, homocystinurias, CBS deficiency, cystathionine beta synthase deficiency ...