Pyrroline-5-carboxylate reductase 2 deficiency

(PYCR2 deficiency)

Synonym(s)
- Hypomyelinating leukodystrophy type 1
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PYCR2 / Proline Biosynthesis Protein
  1q42.12
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Proline biosynthesis protein PYCR2
Pathway
- Ornithine, proline and hydroxyproline metabolism
Disease group(s)
- 1.7 Disorders of ornithine, proline and hydroxyproline metabolism