5C50.8
Disorders of proline or hydroxyproline metabolism
Distúrbios do metabolismo da prolina ou hidroxiprolina
CategoryIndex Terms
Disorders of proline or hydroxyproline metabolismHyperhydroxyprolinaemiaHydroxyprolinaemiaHyperprolinaemia type 1Proline oxydase deficiencyProline dehydrogenase deficiencyHyperprolinaemia type 2Delta1-pyrroline-5-carboxylate dehydrogenase deficiencyPyrroline-5-carboxylase reductase deficiencyProgressive neurodegeneration - joint laxity - cataractHyperammonaemia - hypoornithinaemia - hypocitrullinaemia - hypoargininaemia - hypoprolinaemiaDelta-1-pyrroline 5-carboxylate synthetase deficiencyParadoxical fasting hyperammonaemiaHypoprolinaemia