Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV.
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.
D002331:Carnitine / Q000172:deficiency* / Q000627:therapeutic use; D003998:Dicarboxylic Acids / Q000652:urine*; D006008:Glycogen Storage Disease / Q000378:metabolism*; D006011:Glycogen Storage Disease Type IV / Q000150:complications / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000209:etiology / Q000628:therapy
D003998:Dicarboxylic Acids; D002331:Carnitine