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NEUROLOGY 1986;36:367
© 1986 American Academy of Neurology

Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset

M. de Visser, H. R. Scholte, R.B.H. Schutgens, P. A. Bolhuis, I. E.M. Luyt-Houwen, M. H.M. Vaandrager-Verduin, H. A. Veder and P. L. Oey

Departments of Neurology (Drs. de Visser, Bolhuis, and Oey) and Pediatrics (Drs. Schutgens and Veder), the University of Amsterdam; and the Departments of Biochemistry I (Drs. Scholte and Luyt-Houwen) and Clinical Genetics (Dr. Vaandrager-Verduin), University of Rotterdam, The Netherlands.

A 17-year-old girl with progressive lipid-storage myopathy for 2 years had low muscle carnitine levels. There was no therapeutic response to prednisone and DL-carnitine-HCl. Chemical findings indicated glutaric aciduria type II. Riboflavin therapy and a fat-restricted, carbohydrate-enriched diet resulted in dramatic improvement. Low carnitine concentrations in plasma and muscle were observed in three asymptomatic sisters who had normal urinary excretion patterns. There was impaired mitochondrial ß-oxidation in cultured skin fibroblasts from the index patient and all three siblings.

Address correspondence and reprint requests to Dr. de Visser, Department of Neurology, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

Supported by the Prinses Beatrix Ponds, The Hague, and by the Willem H. Kroger Stichting, Rotterdam, The Netherlands.

Accepted for publication July 26, 1985.




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