" /> Progressive neurodegeneration - joint laxity - cataract - CISMeF





Preferred Label : Progressive neurodegeneration - joint laxity - cataract;

ICD-11 definition : This syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity. It has been described in two siblings. Paradoxical hyperammonemia with hypoprolinemia and hypoornithinemia were also reported. This syndrome is caused by delta 1-pyrroline 5-carboxylate synthetase deficiency.;

ICD-11 synonym : Delta-1-pyrroline 5-carboxylate synthetase deficiency; Hypoprolinaemia; Paradoxical fasting hyperammonaemia; Hyperammonaemia - hypoornithinaemia - hypocitrullinaemia - hypoargininaemia - hypoprolinaemia;

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This syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity. It has been described in two siblings. Paradoxical hyperammonemia with hypoprolinemia and hypoornithinemia were also reported. This syndrome is caused by delta 1-pyrroline 5-carboxylate synthetase deficiency.

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26/07/2025


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