Literature DB >> 28584645

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

Takanobu Yoshida1, Jun Kido1, Hiroshi Mitsubuchi1, Shirou Matsumoto1, Fumio Endo1, Kimitoshi Nakamura1.   

Abstract

Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) results in lactic acidosis and hyperpyruvatemia. Two patients with PDHAD, a man with a p.R263Q mutation, and a girl with a p.C145del mutation in PDHE1α, presented with lactic acidosis with neurological disorder. These patients were able to survive for a long period under careful nursing care. Herein, we discuss the factors contributing to their relatively stable clinical course, albeit with intellectual disability.

Entities:  

Year:  2017        PMID： 28584645      PMCID： PMC5451473          DOI： 10.1038/hgv.2017.20

Source DB:  PubMed          Journal:  Hum Genome Var        ISSN： 2054-345X


  27 in total

1.  Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency.

Authors:  Kristen Berendzen; Douglas W Theriaque; Jonathan Shuster; Peter W Stacpoole
Journal:  Mitochondrion       Date:  2006-05-03       Impact factor: 4.160

2.  Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy.

Authors:  P Briones; M J López; L De Meirleir; A Ribes; M Rodés; C Martinez-Costa; M Peris; W Lissens
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

3.  Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex.

Authors:  B H Robinson; H MacMillan; R Petrova-Benedict; W G Sherwood
Journal:  J Pediatr       Date:  1987-10       Impact factor: 4.406

4.  Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.

Authors:  I D Wexler; S G Hemalatha; J McConnell; N R Buist; H H Dahl; S A Berry; S D Cederbaum; M S Patel; D S Kerr
Journal:  Neurology       Date:  1997-12       Impact factor: 9.910

Review 5.  Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

Authors:  W Lissens; L De Meirleir; S Seneca; I Liebaers; G K Brown; R M Brown; M Ito; E Naito; Y Kuroda; D S Kerr; I D Wexler; M S Patel; B H Robinson; A Seyda
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

6.  Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.

Authors:  Christine Barnerias; Jean-Marie Saudubray; Guy Touati; Pascale De Lonlay; Olivier Dulac; Gerard Ponsot; Cécile Marsac; Michèle Brivet; Isabelle Desguerre
Journal:  Dev Med Child Neurol       Date:  2009-12-01       Impact factor: 5.449

7.  Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.

Authors:  Jessie M Cameron; Valeriy Levandovskiy; Neviana Mackay; Ingrid Tein; Brian H Robinson
Journal:  Am J Med Genet A       Date:  2004-11-15       Impact factor: 2.802

8.  E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy.

Authors:  G Bonne; C Benelli; L De Meirleir; W Lissens; M Chaussain; M Diry; J P Clot; G Ponsot; V Geoffroy; J P Leroux
Journal:  Pediatr Res       Date:  1993-03       Impact factor: 3.756

9.  A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.

Authors:  R Bachmann-Gagescu; J Lawrence Merritt; S H Hahn
Journal:  J Inherit Metab Dis       Date:  2009-07-29       Impact factor: 4.982

10.  Metabolic compartmentalization in the human cortex and hippocampus: evidence for a cell- and region-specific localization of lactate dehydrogenase 5 and pyruvate dehydrogenase.

Authors:  Jocelyn D Laughton; Philippe Bittar; Yves Charnay; Luc Pellerin; Enikö Kovari; Pierre J Magistretti; Constantin Bouras
Journal:  BMC Neurosci       Date:  2007-05-23       Impact factor: 3.288
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  1 in total

Review 1.  Comparison Between Dichloroacetate and Phenylbutyrate Treatment for Pyruvate Dehydrogenase Deficiency.

Authors:  Patricia Karissa; Timothy Simpson; Simon P Dawson; Teck Yew Low; Sook Hui Tay; Fatimah Diana Amin Nordin; Shamsul Mohd Zain; Pey Yee Lee; Yuh-Fen Pung
Journal:  Br J Biomed Sci       Date:  2022-05-19       Impact factor: 2.432
  1 in total

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