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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria.

A 9-year-old boy had recurrent episodes of myoglobinuria and normal urinary organic acid profile. Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency was detected biochemically in cultured skin fibroblasts and confirmed by Western blot analysis. The patient had a distinctive plasma fatty-acid profile, which was present even between attacks. Early diagnosis of this disorder is important because of the apparently protective effect of an appropriate dietary regimen.[1]

References

  1. Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. Minetti, C., Garavaglia, B., Bado, M., Invernizzi, F., Bruno, C., Rimoldi, M., Pons, R., Taroni, F., Cordone, G. Neuromuscul. Disord. (1998) [Pubmed]
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