Literature DB >> 3139934

Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex.

M A Birch-Machin1, I M Shepherd, M Solomon, S J Yeaman, D Gardner-Medwin, H S Sherratt, J G Lindsay, A Aynsley-Green, D M Turnbull.   

Abstract

Pyruvate dehydrogenase complex deficiency is thought to be a common cause of lactic acidosis. We report a patient with lactic acidosis and intermittent weakness. The rate of oxidation of pyruvate by intact skeletal muscle and liver mitochondrial fractions was impaired and pyruvate dehydrogenase complex (PDC) activity was low. The amounts of immunoreactive dihydrolipoyl transacetylase and dihydrolipoyl dehydrogenase in liver and skeletal muscle mitochondrial fractions from the patient were normal. However, there were markedly lower concentrations of both the alpha and beta subunits of the E1 component of PDC.

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Year:  1988        PMID： 3139934     DOI： 10.1007/bf01799876

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


  20 in total

1.  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

Review 2.  Disorders of the pyruvate dehydrogenase complex.

Authors:  D Stansbie; S J Wallace; C Marsac
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

3.  Cleavage of structural proteins during the assembly of the head of bacteriophage T4.

Authors:  U K Laemmli
Journal:  Nature       Date:  1970-08-15       Impact factor: 49.962

4.  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

5.  Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease).

Authors:  H A Kretzschmar; S J DeArmond; T K Koch; M S Patel; C J Newth; K A Schmidt; S Packman
Journal:  Pediatrics       Date:  1987-03       Impact factor: 7.124

6.  Quantitation of rabbit cytochrome P-450, form 2, in microsomal preparations bound directly to nitrocellulose paper using a modified peroxidase-immunostaining procedure.

Authors:  B A Domin; C J Serabjit-Singh; R M Philpot
Journal:  Anal Biochem       Date:  1984-02       Impact factor: 3.365

7.  Phosphorylation of branched-chain 2-oxo acid dehydrogenase complex in isolated adipocytes. Effects of 2-oxo acids.

Authors:  S M Jones; S J Yeaman
Journal:  Biochem J       Date:  1986-05-15       Impact factor: 3.857

8.  Pyruvate dehydrogenase subcomplex with lipoamide dehydrogenase deficiency in a patient with lactic acidosis and branched chain ketoaciduria.

Authors:  S Matuda; A Kitano; Y Sakaguchi; M Yoshino; T Saheki
Journal:  Clin Chim Acta       Date:  1984-06-27       Impact factor: 3.786

9.  Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase.

Authors:  C A Wicking; R D Scholem; S M Hunt; G K Brown
Journal:  Biochem J       Date:  1986-10-01       Impact factor: 3.857

10.  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
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  4 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

3.  Treatment of congenital lactic acidosis with dichloroacetate.

Authors:  P W Stacpoole; C L Barnes; M D Hurbanis; S L Cannon; D S Kerr
Journal:  Arch Dis Child       Date:  1997-12       Impact factor: 3.791

Review 4.  Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.

Authors:  W Sperl; W Ruitenbeek; C M Kerkhof; R C Sengers; J M Trijbels; J P Guggenbichler; A J Janssen; J A Bakkeren
Journal:  Eur J Pediatr       Date:  1990-04       Impact factor: 3.183
  4 in total

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