OnlineIMD
Hydroxyprolinemia
Synonym(s)
Hydroxyproline dehydrogenase deficiency
Type
Disease
External link(s)
IEMbase
Gene
PRODH2
/ Proline Dehydrogenase 2
19q13.12
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Proline dehydrogenase 2, mitochondrial
Pathway
Ornithine, proline and hydroxyproline metabolism
Disease group(s)
1.7 Disorders of ornithine, proline and hydroxyproline metabolism