5C50.8 Disorders of proline or hydroxyproline metabolism

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Disorders of proline or hydroxyproline metabolism
Hyperhydroxyprolinaemia
Hydroxyprolinaemia
Hyperprolinaemia type 1
Proline oxydase deficiency
Proline dehydrogenase deficiency
Hyperprolinaemia type 2
Delta1-pyrroline-5-carboxylate dehydrogenase deficiency
Pyrroline-5-carboxylase reductase deficiency
Progressive neurodegeneration - joint laxity - cataract
Hyperammonaemia - hypoornithinaemia - hypocitrullinaemia - hypoargininaemia - hypoprolinaemia
Delta-1-pyrroline 5-carboxylate synthetase deficiency
Paradoxical fasting hyperammonaemia
Hypoprolinaemia

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