Maaswinkel-Mooy P D, Poorthuis B J, van Gelderen H H, van de Kamp J J
Department of Paediatrics, University Hospital, Leiden, The Netherlands.
Arch Dis Child. 1987 Oct;62(10):1066-7. doi: 10.1136/adc.62.10.1066.
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.