Literature DB >> 16895136

Rhabdomyolysis in the military: recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency.

Jodi D Hoffman1, Robert D Steiner, Lori Paradise, Carey O Harding, Li Ding, Arnold W Strauss, Paige Kaplan.   

Abstract

Very long-chain acyl Co-A dehydrogenase deficiency, an inborn error of lipid metabolism, is commonly thought of as a disease of infancy or early childhood. However, several cases of late-onset very long-chain acyl Co-A dehydrogenase have been reported. This report of two military men who survived basic training before their disease presentation broadens the spectrum of late-onset disease, presents two previously unreported mutations, and demonstrates the fine line between athletic, active lifestyle and severe disease presentation.

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Year:  2006        PMID: 16895136     DOI: 10.7205/milmed.171.7.657

Source DB:  PubMed          Journal:  Mil Med        ISSN: 0026-4075            Impact factor:   1.437


  6 in total

Review 1.  Fatty acid oxidation disorders.

Authors:  J Lawrence Merritt; Marie Norris; Shibani Kanungo
Journal:  Ann Transl Med       Date:  2018-12

2.  Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review.

Authors:  Sharef Waadallah Sharef; Khalfan Al-Senaidi; Surendra Nath Joshi
Journal:  Oman Med J       Date:  2013-09

Review 3.  Inborn errors of energy metabolism associated with myopathies.

Authors:  Anibh M Das; Ulrike Steuerwald; Sabine Illsinger
Journal:  J Biomed Biotechnol       Date:  2010-05-26

4.  Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.

Authors:  J Lawrence Merritt; Tien Nguyen; Jan Daniels; Dietrich Matern; David B Schowalter
Journal:  Mol Ther       Date:  2009-01-20       Impact factor: 11.454

5.  A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy.

Authors:  Vincent Lepori; Franziska Mühlhause; Adrian C Sewell; Vidhya Jagannathan; Nils Janzen; Marco Rosati; Filipe Miguel Maximiano Alves de Sousa; Aurélie Tschopp; Gertraud Schüpbach; Kaspar Matiasek; Andrea Tipold; Tosso Leeb; Marion Kornberg
Journal:  G3 (Bethesda)       Date:  2018-05-04       Impact factor: 3.154

6.  Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.

Authors:  Jessica Scott Schwoerer; Gena Cooper; Sandra van Calcar
Journal:  Mol Genet Metab Rep       Date:  2015-03-30
  6 in total

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