Normalization of short‐chain acylcoenzyme a dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme a dehydrogenase—deficient myopathy
@article{Didonato1989NormalizationOS, title={Normalization of short‐chain acylcoenzyme a dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme a dehydrogenase—deficient myopathy}, author={Stefano Didonato and Cinzia Gellera and Dionisio Peluchetti and Graziella Uziel and Antonella Antonelli and Giacomo Lus and Marco Rimoldi}, journal={Annals of Neurology}, year={1989}, volume={25} }
A 12‐year‐old girl was shown to have carnitine‐deficient lipid storage myopathy and organic aciduria compatible with multiple acylcoenzyme A (acyl‐CoA) dehydrogenase deficiency. In muscle mitochondria, activities of both short‐chain acyl‐CoA dehydrogenase (SCAD) and medium‐chain acyl‐CoA dehydrogenase (MCAD) were 35% of normal. Antibodies against purified SCAD, MCAD, and electron‐transfer flavoprotein were used for detection of cross‐reacting material (CRM) in the patient's mitochondria…
47 Citations
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