Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset.
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 beta-oxidation in cultured skin fibroblasts from the index patient and all three siblings.
D000293:Adolescent; D002331:Carnitine / Q000172:deficiency* / Q000627:therapeutic use; D002648:Child; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007223:Infant; D050356:Lipid Metabolism; D008659:Metabolic Diseases / Q000150:complications* / Q000201:enzymology / Q000235:genetics / Q000378:metabolism; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000378:metabolism; D009135:Muscular Diseases / Q000150:complications* / Q000201:enzymology / Q000235:genetics / Q000378:metabolism; D010375:Pedigree; D012256:Riboflavin / Q000627:therapeutic use*
D005227:Fatty Acids; D005977:Glutarates; C035736:glutaric acid; D002331:Carnitine; D012256:Riboflavin