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.
MeSH terms
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Carnitine / deficiency*
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Carnitine / therapeutic use
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Dicarboxylic Acids / urine*
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Glycogen Storage Disease / metabolism*
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Glycogen Storage Disease Type IV / complications
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Glycogen Storage Disease Type IV / metabolism*
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Humans
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Infant
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Male
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Muscle Hypotonia / etiology
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Muscle Hypotonia / therapy
Substances
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Dicarboxylic Acids
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Carnitine