In the study of "Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency" by Ishii K, Komaki H, Ohkuma A, Nishino I, Nonaka I, Sasaki M., posted in US National Library of Medicine National Institutes of Health, researchers found that The muscle biopsy revealed lipid storage myopathy. Urine organic acid analysis and mutation analysis of the ETFDH gene confirmed the diagnosis of MADD (multiple acyl-CoA dehydrogenase deficiency). With oral supplements of riboflavin and l-carnitine, in addition to a high-calorie and reduced-fat diet, her clinical symptoms improved dramatically. Early diagnosis is important because riboflavin treatment has been effective in a significant number of patients with MADD.
Friday, October 14, 2011
Vitamin B2 (Riboflavin) and Central nervous system and muscle involvement
Posted by Chantel M. Contributed by US National Library of Medicine National Institutes of Health
In the study of "Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency" by Ishii K, Komaki H, Ohkuma A, Nishino I, Nonaka I, Sasaki M., posted in US National Library of Medicine National Institutes of Health, researchers found that The muscle biopsy revealed lipid storage myopathy. Urine organic acid analysis and mutation analysis of the ETFDH gene confirmed the diagnosis of MADD (multiple acyl-CoA dehydrogenase deficiency). With oral supplements of riboflavin and l-carnitine, in addition to a high-calorie and reduced-fat diet, her clinical symptoms improved dramatically. Early diagnosis is important because riboflavin treatment has been effective in a significant number of patients with MADD.
In the study of "Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency" by Ishii K, Komaki H, Ohkuma A, Nishino I, Nonaka I, Sasaki M., posted in US National Library of Medicine National Institutes of Health, researchers found that The muscle biopsy revealed lipid storage myopathy. Urine organic acid analysis and mutation analysis of the ETFDH gene confirmed the diagnosis of MADD (multiple acyl-CoA dehydrogenase deficiency). With oral supplements of riboflavin and l-carnitine, in addition to a high-calorie and reduced-fat diet, her clinical symptoms improved dramatically. Early diagnosis is important because riboflavin treatment has been effective in a significant number of patients with MADD.
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