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Literature DB >> 17237988

Recent advances in amino acid and organic acid metabolism.

Abstract

This paper focuses on the three areas in this field in which there have been advances in amino acid and organic acid metabolism. These are the description of glutamine synthetase deficiency, the elucidation of the mechanism of pyridoxine-dependent convulsions, and a hypothesis to explain the neurological complications of some organic acidaemias.

Entities: Chemical

Mesh：

Substances：

Year: 2007 PMID： 17237988 DOI： 10.1007/s10545-006-0524-4

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.750

28 in total

1. Convulsive seizures in infants with pyridoxine-deficient diet.

Authors: D B COURSIN
Journal: J Am Med Assoc Date: 1954-01-30

Review 2. Advances in the enzymology of glutamine synthesis.

Authors: D L Purich
Journal: Adv Enzymol Relat Areas Mol Biol Date: 1998

3. Efficacy of pyridoxal phosphate in treating an adult with intractable status epilepticus.

Authors: E Nakagawa; T Tanaka; M Ohno; T Yamano; M Shimada
Journal: Neurology Date: 1997-05 Impact factor: 9.910

4. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.

Authors: Stefan Kölker; Sven F Garbade; Cheryl R Greenberg; James V Leonard; Jean-Marie Saudubray; Antonia Ribes; H Serap Kalkanoglu; Allan M Lund; Begoña Merinero; Moacir Wajner; Mónica Troncoso; Monique Williams; John H Walter; Jaume Campistol; Milagros Martí-Herrero; Melissa Caswill; Alberto B Burlina; Florian Lagler; Esther M Maier; Bernd Schwahn; Aysegul Tokatli; Ali Dursun; Turgay Coskun; Ronald A Chalmers; David M Koeller; Johannes Zschocke; Ernst Christensen; Peter Burgard; Georg F Hoffmann
Journal: Pediatr Res Date: 2006-04-26 Impact factor: 3.756

5. The aetiology of neurological complications of organic acidaemias--a role for the blood-brain barrier.

Authors: S Kölker; S W Sauer; R A H Surtees; J V Leonard
Journal: J Inherit Metab Dis Date: 2006-10-14 Impact factor: 4.982

6. Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II.

Authors: R D Farrant; V Walker; G A Mills; J M Mellor; G J Langley
Journal: J Biol Chem Date: 2000-12-29 Impact factor: 5.157

Recent advances in amino acid and organic acid metabolism.

1. Convulsive seizures in infants with pyridoxine-deficient diet.

Review 2. Advances in the enzymology of glutamine synthesis.

3. Efficacy of pyridoxal phosphate in treating an adult with intractable status epilepticus.

4. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.

5. The aetiology of neurological complications of organic acidaemias--a role for the blood-brain barrier.

6. Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II.

Review 7. Inborn error of amino acid synthesis: human glutamine synthetase deficiency.

8. Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine.

9. Treatment of the West syndrome with high-dose pyridoxal phosphate.

10. Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine.

1. Epilepsy in childhood and adolescence.