A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.

Hisahara, Shin; Matsushita, Takashi; Furuyama, Hiroyasu; Tajima, Go; Shigematsu, Yosuke; Imai, Tomihiro; Shimohama, Shun

Hisahara, Shin; Matsushita, Takashi; Furuyama, Hiroyasu; Tajima, Go; Shigematsu, Yosuke; Imai, Tomihiro; Shimohama, Shun.

Affiliation

Hisahara S; Department of Neurology, School of Medicine, Sapporo Medical University.

Tohoku J Exp Med ; 235(4): 305-10, 2015 04.

Article in En | MEDLINE | ID: mdl-25843429

Subject(s)

Acyl-CoA Dehydrogenase, Long-Chain/deficiency; Exercise; Lipid Metabolism, Inborn Errors/complications; Lipid Metabolism, Inborn Errors/genetics; Mitochondrial Diseases/complications; Mitochondrial Diseases/genetics; Muscular Diseases/complications; Muscular Diseases/genetics; Mutation, Missense/genetics; Rhabdomyolysis/complications; Rhabdomyolysis/etiology; Acyl-CoA Dehydrogenase, Long-Chain/blood; Acyl-CoA Dehydrogenase, Long-Chain/chemistry; Acyl-CoA Dehydrogenase, Long-Chain/genetics; Adolescent; Amino Acid Sequence; Base Sequence; Carnitine/analogs & derivatives; Carnitine/blood; Congenital Bone Marrow Failure Syndromes; Heterozygote; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors/blood; Lipid Metabolism, Inborn Errors/enzymology; Male; Mitochondrial Diseases/blood; Mitochondrial Diseases/enzymology; Models, Molecular; Molecular Sequence Data; Muscular Diseases/blood; Muscular Diseases/enzymology; Protein Structure, Tertiary; Sequence Alignment

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Full text: 1 Database: MEDLINE Main subject: Rhabdomyolysis / Exercise / Mutation, Missense / Mitochondrial Diseases / Acyl-CoA Dehydrogenase, Long-Chain / Lipid Metabolism, Inborn Errors / Muscular Diseases Type of study: Prognostic_studies Limits: Adolescent / Humans / Male / Newborn Language: En Journal: Tohoku J Exp Med Year: 2015 Type: Article

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