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Detection of Protein S-Acylation using Acyl-Resin Assisted Capture
Published on: April 10, 2020
Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency
E Kaphan1, H Bou Ali1, M Gastaldi2
1Pôle de neurosciences cliniques, service de neurologie, Assistance publique Hôpitaux de Marseille, CHU Timone, 264, rue St Pierre, 13005 Marseille, France.
Abstract:
We describe two patients with mitochondrial DNA mutations in the gene encoding cytochrome b (m.15579A>G, p.Tyr278Cys and m.15045G>A p.Arg100Gln), which presented as a pure myopathic form (exercise intolerance), with an onset in childhood. Diagnosis was delayed, because acylcarnitine profile showed an increase in medium and long-chain acylcarnitines, suggestive of multiple acyl-CoA dehydrogenase deficiency, riboflavin transporter deficiency or FAD metabolism disorder. Implication of cytochrome b in fatty acid oxidation, and physiopathology of the mutations are discussed.
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