5C50.8 Disorders of proline or hydroxyproline metabolism

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

synonyms

• 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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