Pyrroline-5-carboxylate dehydrogenase deficiency

(ALDH4A1 deficiency)

Synonym(s)
- P5CD deficiency,
- Hyperprolinemia type 2
Type

Disease
External link(s)
Gene
- ALDH4A1 / Aldehyde Dehydrogenase 4 Family Member A1
  1p36.13
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Delta-1-pyrroline-5-carboxylate dehydrogenase
Pathway
- Ornithine, proline and hydroxyproline metabolism
Disease group(s)
- 1.7 Disorders of ornithine, proline and hydroxyproline metabolism