We report a patient who had childhood onset medium-chain acyl Co-A dehydrogenase deficiency, confirmed by gas chromatography-mass spectrometry (Gc-Ms). A 9 year 3 month old girl had suffered from generalized weaknss and hypotonia, including
vomiting,
lethargy and comatous consciousnes.s
This autosomal-recessively inherited myopathy is characterized by organic aciduria that distinguishes from Reye syndrome and other masqueraders characterized by dicarboxylic aciduria.
The key metabolites, subglycine and hexanoylglycine, are excreted in high concentration only when the patients are acutely ill. More signifiantly, using novel technique in Gc-Ms, the medium-chain acylcarnitines, mostly octanolycarnitine are
excreted
without significant excretion of a normal metabolite when the patients are not ill. EMG findings usually show "myopathic" features.
In view of the carnitine deficiency and the demonstration of excretion of the toxic medi um-chain acyl Co-A compounds as acylcarnitines, a combined therapy of reduced dietary fat, 50~150 mg/day of riboflavin and L-carnitine supplementation (25
mg/kg/6h)
has been devised and applied with positive outcome in our patient.
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