Article Text
Research Article
Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV.
Abstract
A 3 year old boy developed an unusually mild form of glycogen storage disease type IV. Metabolic investigations showed severe abnormalities of fatty acid and carnitine metabolism. A muscle carnitine deficiency was found. Treatment with L-carnitine orally led to a notable improvement in muscle strength.
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