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

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Kamoun P, Aral B, Saudubray JM

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

Bull Acad Natl Med. 1998;182(1):131-7; discussion 138-9.

PubMed ID

9622938 [ View in PubMed

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Abstract

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 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.

DrugBank Data that Cites this Article

Drug Targets

Drug	Target	Kind	Organism	Pharmacological Action	Actions
Glutamic acid	Delta-1-pyrroline-5-carboxylate synthase	Protein	Humans	Unknown	Not Available	Details