Literature DB >> 14518830

Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia.

I P Hargreaves1, S J R Heales, A Briddon, P J Lee, M G Hanna, J M Land.   

Abstract

A case of pyruvate dehydrogenase E3 binding protein deficiency is reported in a 24-year-old male with encephalomyopathy. Blood lactate was only minimally elevated, as was alanine.

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Year:  2003        PMID： 14518830     DOI： 10.1023/a:1025181512847

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


  2 in total

1.  Pyruvate dehydrogenase E3 binding protein deficiency.

Authors:  Ruth M Brown; Rosie A Head; Garry K Brown
Journal:  Hum Genet       Date:  2002-01-22       Impact factor: 4.132

2.  "Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis.

Authors:  G K Brown; E A Haan; D M Kirby; R D Scholem; J E Wraith; J G Rogers; D M Danks
Journal:  Eur J Pediatr       Date:  1988-01       Impact factor: 3.183
  2 in total
  2 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
  2 in total

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