Homocystinuria, classical

(CBS deficiency)

Synonym(s)
- Cystathionine beta-synthase deficiency
Type

Disease
External link(s)
Gene
- CBS / Cystathionine Beta-Synthase
  21q22.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Cystathionine beta-synthase
Pathway
- Metabolism of sulfur-containing amino acids and hydrogen sulfide
Disease group(s)
- 1.5 Disorders of the metabolism of sulfur-containing amino acids