Literature DB >> 3126355

Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency.

G K Brown1, R D Scholem, S M Hunt, J R Harrison, A C Pollard.   

Abstract

A patient who presented in the newborn period with severe lactic acidosis and hyperammonaemia has been shown to have a specific defect in the pyruvate dehydrogenase complex. The secondary inhibition of ureagenesis in this patient appears to be due to a functional deficiency of carbamyl phosphate synthetase.

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Year:  1987        PMID： 3126355     DOI： 10.1007/bf01799978

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


  18 in total

1.  Rapid separation of particulate components and soluble cytoplasm of isolated rat-liver cells.

Authors:  P F Zuurendonk; J M Tager
Journal:  Biochim Biophys Acta       Date:  1974-02-22

2.  Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency.

Authors:  S Packman; M J Mahoney; K Tanaka; Y E Hsia
Journal:  J Pediatr       Date:  1978-05       Impact factor: 4.406

3.  Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. Immunological identification.

Authors:  L Ho; C W Hu; S Packman; M S Patel
Journal:  J Clin Invest       Date:  1986-09       Impact factor: 14.808

4.  Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency.

Authors:  F X Coude; H Ogier; C Marsac; A Munnich; C Charpentier; J M Saudubray
Journal:  Pediatrics       Date:  1981-12       Impact factor: 7.124

5.  Low immunogenicity of the common lipoamide dehydrogenase subunit (E3) of mammalian pyruvate dehydrogenase and 2-oxoglutarate dehydrogenase multienzyme complexes.

Authors:  O L De Marcucci; A Hunter; J G Lindsay
Journal:  Biochem J       Date:  1985-03-01       Impact factor: 3.857

6.  The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA.

Authors:  H H Dahl; S M Hunt; W M Hutchison; G K Brown
Journal:  J Biol Chem       Date:  1987-05-25       Impact factor: 5.157

7.  Pyruvate carboxylase and phosphoenolpyruvate carboxykinase activity in leukocytes and fibroblasts from a patient with pyruvate carboxylase deficiency.

Authors:  B M Atkin; M F Utter; M B Weinberg
Journal:  Pediatr Res       Date:  1979-01       Impact factor: 3.756

8.  Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings.

Authors:  J M Saudubray; C Marsac; C L Cathelineau; M Besson Leaud; J P Leroux
Journal:  Acta Paediatr Scand       Date:  1976-11

9.  Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia.

Authors:  F X Coude; L Sweetman; W L Nyhan
Journal:  J Clin Invest       Date:  1979-12       Impact factor: 14.808

10.  The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis.

Authors:  B H Robinson; J Taylor; W G Sherwood
Journal:  Pediatr Res       Date:  1980-08       Impact factor: 3.756
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  16 in total

1.  Multiple enzyme defects in mitochondria of a case with congenital lactic acidosis and hyperammonaemia.

Authors:  M Kobayashi; T Ichiki; N Sugiyama; T Sano; K Ban; T Tsuboi; H Inagaki; K Okajima; H Sobajima; S Suzuki
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 2.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors:  Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2011-10-07       Impact factor: 4.797

3.  Polymorphisms in the human X-linked pyruvate dehydrogenase E1 alpha gene.

Authors:  H H Dahl; W M Hutchison; Z Guo; S M Forrest; L L Hansen
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

4.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors:  Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2012-07       Impact factor: 4.797

5.  Biochemical nature of pyruvate dehydrogenase complex in the patient with primary lactic acidaemia.

Authors:  A Kitano; F Endo; Y Kuroda; S Aso; T Kawasaki; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

Review 6.  Pyruvate dehydrogenase deficiency.

Authors:  G K Brown; L J Otero; M LeGris; R M Brown
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318

Review 7.  Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

Authors:  H H Dahl
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

8.  Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit.

Authors:  L De Meirleir; W Lissens; E Vamos; I Liebaers
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

9.  Mutation of the E1 alpha subunit of the pyruvate dehydrogenase complex, in relation to heterogeneity.

Authors:  A Kitano; F Endo; I Matsuda; S Miyabayashi; H H Dahl
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

10.  Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.

Authors:  L L Hansen; G K Brown; D M Kirby; H H Dahl
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
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