Hyperlysinemia, familial

(AASS deficiency)

Synonym(s)
- Alpha-aminoadipic semialdehyde synthase deficiency,
- Saccharopinuria
Type

Disease
External link(s)
Gene
- AASS / aminoadipate-semialdehyde synthase
  7q31.32
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Aminoadipate-semialdehyde synthase
Pathway
- Lysine, hydroxylysine, and tryptophan metabolism
Disease group(s)
- 1.8 Disorders of lysine, hydroxylysine, and tryptophan metabolism
Child entries
- Saccharopinuria