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Literature DB >> 6434849

Pyruvate carboxylase deficiency.

K Bartlett, H K Ghneim, J H Stirk, G Dale, K G Alberti.

Abstract

The causes of congenital lactic acidaemia are outlined. Isolated pyruvate carboxylase deficiency is reviewed in detail with a report of a recent case and a discussion of the biochemical consequences. Other causes of defective pyruvate carboxylation are described, particularly the combined carboxylase defects.

Entities: Chemical Disease

Mesh：

Substances：

Year: 1984 PMID： 6434849 DOI： 10.1007/bf03047379

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

38 in total

1. Pyruvate carboxylase deficiency and lactic acidosis in a retarded child without Leigh's disease.

Authors: B M Atkin; N R Buist; M F Utter; A B Leiter; B Q Banker
Journal: Pediatr Res Date: 1979-02 Impact factor: 3.756

2. The sodium activation of biotin absorption in hamster small intestine in vitro.

Authors: E Berger; E Long; G Semenza
Journal: Biochim Biophys Acta Date: 1972-03-17

3. Mechanism of biotin-responsive combined carboxylase deficiency.

Authors: H K Ghneim; K Bartlett
Journal: Lancet Date: 1982-05-22 Impact factor: 79.321

4. Antenatal diagnosis of pyruvate-carboxylase deficiency.

Authors: C Marsac; C Augereau; J Boue; M Vidailhet
Journal: Lancet Date: 1981-03-21 Impact factor: 79.321

5. Defective biotin absorption in multiple carboxylase deficiency.

Authors: A Munnich; J M Saudubray; G Carré; F X Coudé; H Ogier; C Charpentier; J Frézal
Journal: Lancet Date: 1981-08-01 Impact factor: 79.321

6. Deficient biotinidase activity in late-onset multiple carboxylase deficiency.

Authors: B Wolf; R E Grier; W D Parker; S I Goodman; R J Allen
Journal: N Engl J Med Date: 1983-01-20 Impact factor: 91.245

7. Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.

Authors: B J Burri; L Sweetman; W L Nyhan
Journal: J Clin Invest Date: 1981-12 Impact factor: 14.808

8. A patient with pyruvate carboxylase deficiency in the liver: treatment with aspartic acid and thiamine.

Authors: M G Baal; F J Gabreëls; W O Renier; F A Hommes; T H Gijsbers; K J Lamers; J C Kok
Journal: Dev Med Child Neurol Date: 1981-08 Impact factor: 5.449

9. Inherited disorders of 3-methylcrotonyl CoA carboxylation.

Authors: J V Leonard; J W Seakins; K Bartlett; J Hyde; J Wilson; B Clayton
Journal: Arch Dis Child Date: 1981-01 Impact factor: 3.791

10. Studies on pyruvate carboxylase, pyruvate decarboxylase and lipoamide dehydrogenase in subacute necrotizing encephalomyelopathy.

Authors: T L Hansen; E Christensen; N J Brandt
Journal: Acta Paediatr Scand Date: 1982-03

5 in total

1. The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.

Authors: Dong Wang; Hong Yang; Kevin C De Braganca; Jiesheng Lu; Ling Yu Shih; Paz Briones; Tim Lang; Darryl C De Vivo
Journal: Mol Genet Metab Date: 2008-08-03 Impact factor: 4.797

Review 2. Enzyme studies in biotin-responsive disorders.

Authors: K Bartlett; H K Ghneim; H J Stirk; H Wastell
Journal: J Inherit Metab Dis Date: 1985 Impact factor: 4.982

3. The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and Northern blotting with a cloned cDNA probe.

Authors: B H Robinson; J Oei; J M Saudubray; C Marsac; K Bartlett; F Quan; R Gravel
Journal: Am J Hum Genet Date: 1987-01 Impact factor: 11.025

4. Lactic acidaemia.

Authors: B H Robinson; W G Sherwood
Journal: J Inherit Metab Dis Date: 1984 Impact factor: 4.982

Review 5. The biochemical basis of mitochondrial diseases.

Authors: H R Scholte
Journal: J Bioenerg Biomembr Date: 1988-04 Impact factor: 2.945

5 in total