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Literature DB >> 9622938

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

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.

Entities: Chemical Disease Gene Mutation Species

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Year: 1998 PMID： 9622938

Source DB: PubMed Journal: Bull Acad Natl Med ISSN： 0001-4079 Impact factor: 0.144

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Cited

13 in total

1. A risk factor for chronic mild hyperammonaemia.

Authors: Pierre Kamoun; Daniel Rabier; Jean-Marie Saudubray
Journal: Eur J Pediatr Date: 2002-04 Impact factor: 3.183

2. Glutamate-related gene expression changes with age in the mouse auditory midbrain.

Authors: Sherif F Tadros; Mary D'Souza; Martha L Zettel; Xiaoxia Zhu; Nicole C Waxmonsky; Robert D Frisina
Journal: Brain Res Date: 2006-11-17 Impact factor: 3.252

3. In Vivo Exposures to Particulate Matter Collected from Saudi Arabia or Nickel Chloride Display Similar Dysregulation of Metabolic Syndrome Genes.

Authors: Jason Brocato; Michelle Hernandez; Freda Laulicht; Hong Sun; Magdy Shamy; Mansour A Alghamdi; Mamdouh I Khoder; Thomas Kluz; Lung-Chi Chen; Max Costa
Journal: J Toxicol Environ Health A Date: 2015

4. Disruption of Proline Synthesis in Melanoma Inhibits Protein Production Mediated by the GCN2 Pathway.

Authors: Gregory R Kardos; Hannah C Wastyk; Gavin P Robertson
Journal: Mol Cancer Res Date: 2015-06-16 Impact factor: 5.852

5. Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.

Authors: Matthias R Baumgartner; Daniel Rabier; Marie-Cécile Nassogne; Jean-Louis Dufier; Jean-Paul Padovani; Pierre Kamoun; David Valle; Jean-Marie Saudubray
Journal: Eur J Pediatr Date: 2004-10-28 Impact factor: 3.183

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

1. A risk factor for chronic mild hyperammonaemia.

2. Glutamate-related gene expression changes with age in the mouse auditory midbrain.

3. In Vivo Exposures to Particulate Matter Collected from Saudi Arabia or Nickel Chloride Display Similar Dysregulation of Metabolic Syndrome Genes.

4. Disruption of Proline Synthesis in Melanoma Inhibits Protein Production Mediated by the GCN2 Pathway.

5. Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.

Review 6. Arginine metabolism: nitric oxide and beyond.

7. Human Delta1-pyrroline-5-carboxylate synthase: function and regulation.

Review 8. Non-P450 aldehyde oxidizing enzymes: the aldehyde dehydrogenase superfamily.

Review 9. Aldehyde dehydrogenases in cellular responses to oxidative/electrophilic stress.

Review 10. Substrate channeling in proline metabolism.