Literature DB >> 8276024

A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria.

A C Sewell1, J Herwig, H Böhles, P Rinaldo, A Bhala, D E Hale.   

Abstract

A 28-month-old Turkish girl presented with recurrent bronchopneumonia and severe muscular hypotonia. Urinary excretion of ethylmalonic acid was persistently elevated, methylsuccinate appearing only in stress situations. Studies in cultured fibroblasts showed a deficiency of short-chain acyl-CoA dehydrogenase.

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Year:  1993        PMID： 8276024     DOI： 10.1007/bf01957531

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  11 in total

1.  New clinical phenotype of branched-chain acyl-CoA oxidation defect.

Authors:  A Burlina; F Zacchello; C Dionisi-Vici; E Bertini; G Sabetta; M J Bennet; D E Hale; E Schmidt-Sommerfeld; P Rinaldo
Journal:  Lancet       Date:  1991-12-14       Impact factor: 79.321

2.  4-Hydroxycyclohexanecarboxylic acid: a rare compound in urinary organic acid analysis.

Authors:  A C Sewell; H J Böhles
Journal:  Clin Chem       Date:  1991-07       Impact factor: 8.327

3.  Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness.

Authors:  P M Coates; D E Hale; G Finocchiaro; K Tanaka; S C Winter
Journal:  J Clin Invest       Date:  1988-01       Impact factor: 14.808

4.  The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect.

Authors:  M J Bennett; R G Gray; D M Isherwood; N Murphy; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

5.  Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.

Authors:  D M Turnbull; K Bartlett; D L Stevens; K G Alberti; G J Gibson; M A Johnson; A J McCulloch; H S Sherratt
Journal:  N Engl J Med       Date:  1984-11-08       Impact factor: 91.245

6.  Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine.

Authors:  P Rinaldo; J J O'Shea; P M Coates; D E Hale; C A Stanley; K Tanaka
Journal:  N Engl J Med       Date:  1988-11-17       Impact factor: 91.245

7.  Fatty acyl-CoA dehydrogenase deficiency: enzyme measurement and studies on alternative metabolism.

Authors:  N Gregersen
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

8.  Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.

Authors:  D E Hale; M L Batshaw; P M Coates; F E Frerman; S I Goodman; I Singh; C A Stanley
Journal:  Pediatr Res       Date:  1985-07       Impact factor: 3.756

9.  Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients.

Authors:  B A Amendt; C Greene; L Sweetman; J Cloherty; V Shih; A Moon; L Teel; W J Rhead
Journal:  J Clin Invest       Date:  1987-05       Impact factor: 14.808

10.  Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. Isolation of the holo- and apoenzymes and conversion of the apoenzyme to the holoenzyme.

Authors:  Y Ikeda; K Okamura-Ikeda; K Tanaka
Journal:  J Biol Chem       Date:  1985-01-25       Impact factor: 5.157
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  13 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.  Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis.

Authors:  K E Baerlocher; B Steinmann; A Aguzzi; S Krähenbühl; C R Roe; C Vianey-Saban
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

3.  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

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.  Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency.

Authors:  Shwetha Chiplunkar; Parayil Sankaran Bindu; Madhu Nagappa; Bobby Baby Panikulam; Hanumanthapura R Arvinda; Periyasamy Govindaraj; M M Srinivas Bharath; Narayanappa Gayathri; J N Jessiena Ponmalar; Pavagada S Mathuranath; Sanjib Sinha; Arun B Taly
Journal:  Metab Brain Dis       Date:  2017-04-03       Impact factor: 3.584

Review 6.  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

7.  Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene.

Authors:  J Seidel; S Streck; K Bellstedt; C Vianey-Saban; C B Pedersen; J Vockley; H Korall; M Roskos; T Deufel; K F Trefz; A C Sewell; E Kauf; F Zintl; W Lehnert; N Gregersen
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

8.  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

9.  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

Review 10.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder.

Authors:  A C Sewell; S W Bender; S Wirth; H Münterfering; L Ijlist; R J Wanders
Journal:  Eur J Pediatr       Date:  1994-10       Impact factor: 3.183
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