1.1.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 1

AOA

Aminoacid and organic acids related disorders

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