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 Lcarnitine orally led to a notable improvement in muscle strength.
CITATION STYLE
Maaswinkel-Mooy, P. D., Poorthuis, B. J. H. M., Van Gelderen, H. H., & Van De Kamp, J. J. P. (1987). Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV. Archives of Disease in Childhood, 62(10), 1066–1080. https://doi.org/10.1136/adc.62.10.1066
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