Literature DB >> 1640293

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.

J P Bonnefont1, D Chretien, P Rustin, B Robinson, A Vassault, J Aupetit, C Charpentier, D Rabier, J M Saudubray, A Munnich.   

Abstract

We report an inborn error of the tricarboxylic acid cycle, alpha-ketoglutarate dehydrogenase deficiency, in three siblings with hypotonia, metabolic acidosis, and hyperlactatemia immediately after birth. Neurologic deterioration resulted in death at about 30 months of age. We propose low molar ratios of ketone bodies in plasma of neonates with congenital lactic acidosis as an indication of dysfunction of the tricarboxylic acid cycle.

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Year:  1992        PMID： 1640293     DOI： 10.1016/s0022-3476(05)81199-0

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


  25 in total

Review 1.  Magnetic resonance imaging in lactic acidosis.

Authors:  M S van der Knaap; C Jakobs; J Valk
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  Expression of oxidative phosphorylation genes in muscle cell cultures from patients with mitochondrial myopathies.

Authors:  J M Collombet; H Faure-Vigny; G Mandon; R Dumoulin; S Boissier; A Bernard; B Mousson; G Stepien
Journal:  Mol Cell Biochem       Date:  1997-03       Impact factor: 3.396

Review 3.  Metabolic biology of 3-methylglutaconic acid-uria: a new perspective.

Authors:  Betty Su; Robert O Ryan
Journal:  J Inherit Metab Dis       Date:  2014-01-10       Impact factor: 4.982

Review 4.  Clinical presentations and laboratory investigations in respiratory chain deficiency.

Authors:  A Munnich; A Rötig; D Chretien; J M Saudubray; V Cormier; P Rustin
Journal:  Eur J Pediatr       Date:  1996-04       Impact factor: 3.183

Review 5.  Metabolic intermediates in lactic acidosis: compounds, samples and interpretation.

Authors:  F Poggi-Travert; D Martin; T Billette de Villemeur; J P Bonnefont; A Vassault; D Rabier; C Charpentier; P Kamoun; A Munnich; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

6.  Targeted disruption of the murine dihydrolipoamide dehydrogenase gene (Dld) results in perigastrulation lethality.

Authors:  M T Johnson; H S Yang; T Magnuson; M S Patel
Journal:  Proc Natl Acad Sci U S A       Date:  1997-12-23       Impact factor: 11.205

7.  2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case.

Authors:  N Guffon; C Lopez-Mediavilla; R Dumoulin; B Mousson; C Godinot; H Carrier; J M Collombet; P Divry; M Mathieu; P Guibaud
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

8.  Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

Authors:  T Bourgeron; D Chretien; J Poggi-Bach; S Doonan; D Rabier; P Letouzé; A Munnich; A Rötig; P Landrieu; P Rustin
Journal:  J Clin Invest       Date:  1994-06       Impact factor: 14.808

9.  Behavioral impact of the regulation of the brain 2-oxoglutarate dehydrogenase complex by synthetic phosphonate analog of 2-oxoglutarate: implications into the role of the complex in neurodegenerative diseases.

Authors:  L Trofimova; M Lovat; A Groznaya; E Efimova; T Dunaeva; M Maslova; A Graf; V Bunik
Journal:  Int J Alzheimers Dis       Date:  2010-10-26

Review 10.  Biochemical diagnosis of mitochondrial disorders.

Authors:  Richard J T Rodenburg
Journal:  J Inherit Metab Dis       Date:  2010-05-04       Impact factor: 4.982
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