Literature DB >> 7815230

Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome.

O N Elpeleg1, W Ruitenbeek, C Jakobs, V Barash, D C De Vivo, N Amir.   

Abstract

A 5-year-old boy had recurrent vomiting and lethargy with lacticacidemia and ketoacidemia since birth. Lipoamide dehydrogenase deficiency was found in muscle and fibroblasts. Therapy with sodium dichloroacetate, thiamine, and carnitine was associated with reduction of the severity and frequency of the decompensation episodes and near normal plasma lactate levels. At 5 years of age, the patient has normal cognitive function and moderate motor impairment.

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Year:  1995        PMID： 7815230     DOI： 10.1016/s0022-3476(95)70506-6

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  9 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.  Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family.

Authors:  C Sansaricq; S Pardo; M Balwani; M Grace; K Raymond
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

3.  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

4.  Multiple presentation of mitochondrial disorders.

Authors:  A Nissenkorn; A Zeharia; D Lev; A Fatal-Valevski; V Barash; A Gutman; S Harel; T Lerman-Sagie
Journal:  Arch Dis Child       Date:  1999-09       Impact factor: 3.791

5.  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

6.  Mitochondrial Disease.

Authors:  Roser Pons; Darryl C. De Vivo
Journal:  Curr Treat Options Neurol       Date:  2001-05       Impact factor: 3.598

7.  Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.

Authors:  Ruth M Brown; Rosemary A Head; Ivan I Boubriak; James V Leonard; Neil H Thomas; Garry K Brown
Journal:  Hum Genet       Date:  2004-05-11       Impact factor: 4.132

8.  Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.

Authors:  Olga Grafakou; Konrad Oexle; Lambert van den Heuvel; Roel Smeets; Frans Trijbels; Hans H Goebel; Nils Bosshard; Andrea Superti-Furga; Beat Steinmann; Jan Smeitink
Journal:  Eur J Pediatr       Date:  2003-08-19       Impact factor: 3.183

9.  The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia.

Authors:  Anar Alfarsi; Majid Alfadhel; Seham Alameer; Amal Alhashem; Brahim Tabarki; Faroug Ababneh; Ahmed Al Fares; Fuad Al Mutairi
Journal:  Mol Genet Metab Rep       Date:  2021-10-23
  9 in total

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