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Case Reports
. 1987 Oct;62(10):1066-7.
doi: 10.1136/adc.62.10.1066.

Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV

P D Maaswinkel-Mooy  1 , B J Poorthuis, H H van Gelderen, J J van de Kamp
Affiliations
Case Reports

Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV

P D Maaswinkel-Mooy et al. Arch Dis Child. 1987 Oct.

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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References

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    1. J Inherit Metab Dis. 1984;7 Suppl 1:44-7 - PubMed
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