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B Acad Nat Med Paris · Jan 1998
Case Reports[A new inherited metabolic disease: delta1-pyrroline 5-carboxylate synthetase deficiency].
- P Kamoun, B Aral, and J M Saudubray.
- Laboratoire de Biochimie médicale B, URA CNRS 1335, Paris.
- B Acad Nat Med Paris. 1998 Jan 1; 182 (1): 131-7; discussion 138-9.
Abstractdelta 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 cloned human P5C synthetase-cDNA by database cloning strategy: this cDNA has an open reading frame of 2,385 bases coding for a polypeptide of 795 amino acids. Both patients are homozygous for an L396S substitution, this amino acid being highly conserved across species. This is the first report of a P5C synthetase deficiency in human.
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