Literature DB >> 6783978

Pyruvate dehydrogenase deficiency restricted to brain.

M Prick, F Gabreëls, W Renier, F Trijbels, H Jaspar, K Lamers, J Kok.   

Abstract

We studied a child with a rapidly progressive neurologic disorder, with psychomotor retardation, hypotonia, seizures, and respiratory disturbances. Laboratory studied showed elevated levels of lactate and pyruvate in cerebrospinal fluid (CSF), without notable elevated levels in serum. In liver, muscle, leukocytes, and cultured fibroblasts we found no abnormality in pyruvate oxidation; biochemical studies of a brain biopsy showed an isolated deficiency of pyruvate dehydrogenase complex in brain tissue with the morphologic picture of progressive poliodystrophy with hypomyelination.

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Year:  1981        PMID： 6783978     DOI： 10.1212/wnl.31.4.398

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


  15 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

Review 3.  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

4.  Lipoamidase (lipoyl-X hydrolase) from pig brain.

Authors:  J Oizumi; K Hayakawa
Journal:  Biochem J       Date:  1990-03-01       Impact factor: 3.857

5.  Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain.

Authors:  P M van Erven; F J Gabreëls; W Ruitenbeek; W O Renier; K J Lamers; J L Sloof
Journal:  J Neurol       Date:  1987-05       Impact factor: 4.849

6.  Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation.

Authors:  J B Clark; D J Hayes; J A Morgan-Hughes; E Byrne
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

7.  Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.

Authors:  M Ito; A H Huq; E Naito; T Saijo; E Takeda; Y Kuroda
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

8.  Neuropathology in cerebral lactic acidosis.

Authors:  C W Chow; R M Anderson; G C Kenny
Journal:  Acta Neuropathol       Date:  1987       Impact factor: 17.088

9.  An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.

Authors:  F Takakubo; P Cartwright; N Hoogenraad; D R Thorburn; F Collins; T Lithgow; H H Dahl
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

10.  Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells.

Authors:  M Ito; E Naito; I Yokota; E Takeda; J Matsuda; M Hirose; H Sejima; H Aiba; H Hojo; Y Kuroda
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982
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