Literature DB >> 413346

Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency.

H Wick, K Schweizer, R Baumgartner.   

Abstract

A patient with congenital lactic acidosis, muscular hypotonia and severe ataxia is reported. The aetiology of his disease was found to be a deficiency of pyruvate dehydrogenase (E.C. 4.1.1.1.). Thiamine treatment (1.8 g/day) was successful in correcting biochemical and clinical symptoms. The mechanism of its action is probably based on activation of pyruvate dehydrogenase through interference in the physiologic regulation.

Entities:  

Mesh：

Substances：

Year:  1977        PMID： 413346     DOI： 10.1007/bf01969575

Source DB:  PubMed          Journal:  Agents Actions        ISSN： 0065-4299


  18 in total

1.  Letter: Pyruvate decarboxylase deficiency in liver.

Authors:  J L Willems; L A Monnens; J M Trijbels; R C Sengers; J H Veerkamp
Journal:  N Engl J Med       Date:  1974-02-14       Impact factor: 91.245

2.  Clinical studies of a patient with pyruvate decarboxylase deficiency.

Authors:  J P Blass; A P Kark; W K Engel
Journal:  Arch Neurol       Date:  1971-11

3.  Pyruvate dehydrogenase phosphatase deficiency: a cause of congenital chronic lactic acidosis in infancy.

Authors:  B H Robinson; W G Sherwood
Journal:  Pediatr Res       Date:  1975-12       Impact factor: 3.756

4.  Improved method for the estimation of plasma ammonia by ion exchange.

Authors:  J C Fenton; A H Williams
Journal:  J Clin Pathol       Date:  1968-01       Impact factor: 3.411

5.  Ketonic diet in the management of pyruvate dehydrogenase deficiency.

Authors:  R E Falk; S D Cederbaum; J P Blass; G E Gibson; R A Kark; R E Carrel
Journal:  Pediatrics       Date:  1976-11       Impact factor: 7.124

6.  Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis.

Authors:  D F Farrell; A F Clark; C R Scott; R P Wennberg
Journal:  Science       Date:  1975-03-21       Impact factor: 47.728

7.  Citrate treatment in a patient with pyruvate decarboxylase deficiency.

Authors:  Y Oka; I Matsuda; S Arashima; M Anakura; T Mitsuyama
Journal:  Tohoku J Exp Med       Date:  1976-02       Impact factor: 1.848

8.  Lactic acidosis in three sibs due to defects in both pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase complexes.

Authors:  J C Haworth; T L Perry; J P Blass; S Hansen; N Urquhart
Journal:  Pediatrics       Date:  1976-10       Impact factor: 7.124

9.  A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.

Authors:  J P Blass; J Avigan; B W Uhlendorf
Journal:  J Clin Invest       Date:  1970-03       Impact factor: 14.808

10.  An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis.

Authors:  J P Blass; J D Schulman; D S Young; E Hom
Journal:  J Clin Invest       Date:  1972-07       Impact factor: 14.808
View more
  7 in total

Review 1.  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

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:  2012-07       Impact factor: 4.797

Review 3.  Mitochondrial myopathies. Clinical, morphological and biochemical aspects.

Authors:  R C Sengers; A M Stadhouders; J M Trijbels
Journal:  Eur J Pediatr       Date:  1984-02       Impact factor: 3.183

4.  Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.

Authors:  D T Chuang; L S Ku; R P Cox
Journal:  Proc Natl Acad Sci U S A       Date:  1982-05       Impact factor: 11.205

Review 5.  Thiamine (vitamin B1) in septic shock: a targeted therapy.

Authors:  Ari Moskowitz; Michael W Donnino
Journal:  J Thorac Dis       Date:  2020-02       Impact factor: 2.895

Review 6.  Thiamine-responsive inborn errors of metabolism.

Authors:  M Duran; S K Wadman
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

7.  Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts.

Authors:  K F Sheu; C W Hu; M F Utter
Journal:  J Clin Invest       Date:  1981-05       Impact factor: 14.808
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.