Literature DB >> 2381545

Immunochemical analysis of pyruvate dehydrogenase complex in 2 boys with primary lactic acidemia.

A Kitano1, F Endo, I Matsuda.   

Abstract

We examined the pyruvate dehydrogenase (PDH) complex using bio- and immunochemical methods with cultured cells derived from 2 boys with mental retardation, ataxia, and primary lactic acidemia due to partial deficiency in the PDH complex. We found a defect in dephosphorylation and the subsequent activation of the E1 alpha subunit of the enzyme.

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Year:  1990        PMID： 2381545     DOI： 10.1212/wnl.40.8.1312

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  5 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.  A case of PDH-E1 alpha mosaicism in a male patient with severe metabolic lactic acidosis.

Authors:  A Seyda; K Chun; S Packman; B H Robinson
Journal:  J Inherit Metab Dis       Date:  2001-10       Impact factor: 4.982

4.  Characterization of a point mutation in the pyruvate dehydrogenase E1 alpha gene from two boys with primary lactic acidaemia.

Authors:  H Awata; F Endo; A Tanoue; A Kitano; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

5.  Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival.

Authors:  Takanobu Yoshida; Jun Kido; Hiroshi Mitsubuchi; Shirou Matsumoto; Fumio Endo; Kimitoshi Nakamura
Journal:  Hum Genome Var       Date:  2017-06-01
  5 in total

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