Literature DB >> 7815229

Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency.

D B Dawson1, L Waber, D E Hale, M J Bennett.   

Abstract

A neonate with signs of neurologic dysfunction was noted to have elevated blood lactic acid levels. Organic acid analysis revealed transient elevations in ethylmalonate, methylsuccinate, butyrylglycine, and butyrylcarnitine. Enzyme assay in cultured skin fibroblasts confirmed short-chain acyl coenzyme. A dehydrogenase deficiency. The intermittent nature of the characteristic metabolic markers for this deficiency make diagnosis difficult. The apparent rarity of the disorder may be the result of underdiagnosis.

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Year:  1995        PMID： 7815229     DOI： 10.1016/s0022-3476(95)70505-8

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


  11 in total

Review 1.  Short-chain acyl-coenzyme A dehydrogenase deficiency.

Authors:  Reena Jethva; Michael J Bennett; Jerry Vockley
Journal:  Mol Genet Metab       Date:  2008-11-05       Impact factor: 4.797

2.  Effect of in vivo administration of ethylmalonic acid on energy metabolism in rat tissues.

Authors:  Gustavo da C Ferreira; Karina Roth André; Patrícia Fernanda Schuck; Carolina M Viegas; Anelise Tonin; Daniella de Moura Coelho; Angela T S Wyse; Clóvis M D Wannmacher; Carmen R Vargas; Moacir Wajner
Journal:  Metab Brain Dis       Date:  2006-04-28       Impact factor: 3.584

3.  Inhibition of the electron transport chain and creatine kinase activity by ethylmalonic acid in human skeletal muscle.

Authors:  Alethea G Barschak; Gustavo da C Ferreira; Karina R André; Patrícia F Schuck; Carolina M Viegas; Anelise Tonin; Carlos S Dutra Filho; Angela T S Wyse; Clóvis M D Wannmacher; Carmen R Vargas; Moacir Wajner
Journal:  Metab Brain Dis       Date:  2006-04-28       Impact factor: 3.584

Review 4.  Disorders of mitochondrial fatty acyl-CoA beta-oxidation.

Authors:  R J Wanders; P Vreken; M E den Boer; F A Wijburg; A H van Gennip; L IJlst
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

5.  Ethylmalonic acid inhibits mitochondrial creatine kinase activity from cerebral cortex of young rats in vitro.

Authors:  Guilhian Leipnitz; Patrícia F Schuck; César A J Ribeiro; Karina B Dalcin; Dênis R Assis; Alethea G Barschak; Vânia Pulrolnik; Clóvis M D Wannmacher; Angela T S Wyse; Moacir Wajner
Journal:  Neurochem Res       Date:  2003-05       Impact factor: 3.996

6.  A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis.

Authors:  G Shilpa Reddy; M Sujatha
Journal:  Indian J Clin Biochem       Date:  2011-06-08

Review 7.  Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.

Authors:  Zahra Nochi; Rikke Katrine Jentoft Olsen; Niels Gregersen
Journal:  J Inherit Metab Dis       Date:  2017-05-17       Impact factor: 4.982

8.  Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

Authors:  S E Waisbren; H L Levy; M Noble; D Matern; N Gregersen; K Pasley; D Marsden
Journal:  Mol Genet Metab       Date:  2008-08-03       Impact factor: 4.797

9.  The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.

Authors:  Christina B Pedersen; Steen Kølvraa; Agnete Kølvraa; Vibeke Stenbroen; Margrethe Kjeldsen; Regina Ensenauer; Ingrid Tein; Dietrich Matern; Piero Rinaldo; Christine Vianey-Saban; Antonia Ribes; Willy Lehnert; Ernst Christensen; Thomas J Corydon; Brage S Andresen; Søren Vang; Lars Bolund; Jerry Vockley; Peter Bross; Niels Gregersen
Journal:  Hum Genet       Date:  2008-06-04       Impact factor: 4.132

10.  Inhibition of creatine kinase activity in vitro by ethylmalonic acid in cerebral cortex of young rats.

Authors:  Patrícia F Schuck; Guilhian Leipnitz; César A J Ribeiro; Karina B Dalcin; Dênis R Assis; Alethea G Barschak; Vânia Pulrolnik; Clóvis M D Wannmacher; Angela T S Wyse; Moacir Wajner
Journal:  Neurochem Res       Date:  2002-12       Impact factor: 3.996
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