Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation

INTRODUCTION: Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive mitochondrial fatty acid oxidation disorder and presents as hypoketotic hypoglycemia or rhabdomyolysis during childhood. l-Carnitine supplementation for patients with VLCAD deficiency is controversial....

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Bibliographische Detailangaben
Veröffentlicht in:Mol Genet Metab Rep
Hauptverfasser: Watanabe, Kenji, Yamada, Kenji, Sameshima, Koji, Yamaguchi, Seiji
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2018
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6047112/
https://ncbi.nlm.nih.gov/pubmed/30023301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.03.007
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