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Article

[A new inherited metabolic disease: delta1-pyrroline 5-carboxylate synthetase deficiency].

Bulletin de l'Academie nationale de medecine - 1 Jan 1998

Kamoun P, Aral B, Saudubray J M

Abstract excerpt

delta 1-pyrroline 5-carboxylate synthetase (P5C synthetase) catalyzes the ATP and the NAD(P)H-dependent conversion of L-glutamate to glutamate semialdehyde (GSA) which is the metabolic precursor for proline biosynthesis. We described in two siblings a paradoxical hyperammonemia with hypoprolinemia and hypoornithinemia associated to bilateral cataract, mental retardation, joint laxity and skin hyperelasticity. We...

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PMID: 9622938

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[A new inherited metabolic disease: delta1-pyrroline 5-carboxylate synthetase deficiency].PMID 9622938Read ↗

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