1.01.g
Disorders of ornithine, proline and hydroxyproline metabolism
- Ornithine aminotransferase deficiency (Gyrate atrophy of choroid and retin)
- Delta-1-pyrroline-5-carboxylate synthase deficiency, cutis laxa phenotype (Autosomal recessive cutis laxa type 3A; autosomal dominant cutis laxa type 3)
- Delta-1-pyrroline-5-carboxylate synthase deficiency, spastic paraplegia phenotype (Spastic paraplegia type 9)
- Pyrroline-5-carboxylate reductase 1 deficiency (Autosomal recessive cutis laxa type 2B; autosomal recessive cutis laxa type 3B)
- Pyrroline-5-carboxylate reductase 2 deficiency (Hypomyelinating leukodystrophy type 1)
- Proline dehydrogenase deficiency (Proline oxidase deficiency; hyperprolinemia type 1)
- Pyrroline-5-carboxylate dehydrogenase deficiency (Hyperprolinemia type 2)
- Hydroxyproline dehydrogenase deficiency (Hydroxyprolinemia)
- 4-hydroxy-2-oxoglutarate aldolase 1 deficiency (Primary hyperoxaluria type 3)
Subnetworks
AOA
Aminoacid and organic acids related disorders
