Term Name:	homocystinuria
Synonyms:	CBS deficiency, cystathionine beta synthase deficiency, cystathionine synthase deficiency
Definition:	An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
Ontology:	Human Disease [DOID:9263]   ( DOID:9263 )