Proline dehydrogenase deficiency

(PRODH deficiency)

Synonym(s)
- Proline oxidase deficiency,
- Hyperprolinemia type 1
Type

Disease
External link(s)
Gene
- PRODH / Proline Dehydrogenase
  22q11.21
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Proline dehydrogenase, mitochondrial
Pathway
- Ornithine, proline and hydroxyproline metabolism
Disease group(s)
- 1.7 Disorders of ornithine, proline and hydroxyproline metabolism