TY - JOUR
T1 - Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect
AU - Cotelli, Maria Sofia
AU - Vielmi, Valentina
AU - Rimoldi, Marco
AU - Rizzetto, Manuela
AU - Castellotti, Barbara
AU - Bertasi, Valeria
AU - Todeschini, Alice
AU - Gregorelli, Valeria
AU - Baronchelli, Carla
AU - Gellera, Cinzia
AU - Padovani, Alessandro
AU - Filosto, Massimiliano
PY - 2012/3/23
Y1 - 2012/3/23
N2 - Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessively inherited disorder of fatty acid metabolism due to ETFA, ETFB or ETFDH mutations. Riboflavin treatment ameliorates symptoms and metabolic profile in ETFDH-related MADD patients. We report on a 20-year-old boy with an 8-year history of progressive difficulty in walking, running and climbing stairs. Muscle biopsy showed a lipid myopathy and the acylcarnitine profile analysis was suggestive of MADD. Nevertheless, no evidence of molecular defects in the ETFA, ETFB and ETFDH exons or intron-exon boundaries was found. Treatment with riboflavin for 1 year resulted in a clear improvement in motor functions. Our report shows that some cases of MADD are not linked to ETFA, ETFB and ETFDH exon or intron-exon boundary changes. They could be due to quite rare promoter or deep intronic mutations or, most likely, to some unknown genetic defect. We therefore suggest to extend in these cases molecular studies to cDNA analysis and indicate the need of extensive pedigree studies to identify other possible disease-related loci. Most important, treatment of these cases with riboflavin can also be effective. Therefore, early diagnosis is essential to achieve the best treatment response.
AB - Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessively inherited disorder of fatty acid metabolism due to ETFA, ETFB or ETFDH mutations. Riboflavin treatment ameliorates symptoms and metabolic profile in ETFDH-related MADD patients. We report on a 20-year-old boy with an 8-year history of progressive difficulty in walking, running and climbing stairs. Muscle biopsy showed a lipid myopathy and the acylcarnitine profile analysis was suggestive of MADD. Nevertheless, no evidence of molecular defects in the ETFA, ETFB and ETFDH exons or intron-exon boundaries was found. Treatment with riboflavin for 1 year resulted in a clear improvement in motor functions. Our report shows that some cases of MADD are not linked to ETFA, ETFB and ETFDH exon or intron-exon boundary changes. They could be due to quite rare promoter or deep intronic mutations or, most likely, to some unknown genetic defect. We therefore suggest to extend in these cases molecular studies to cDNA analysis and indicate the need of extensive pedigree studies to identify other possible disease-related loci. Most important, treatment of these cases with riboflavin can also be effective. Therefore, early diagnosis is essential to achieve the best treatment response.
KW - Glutaric aciduria type II
KW - Lipid myopathy
KW - MADD
KW - Riboflavin
UR - http://www.scopus.com/inward/record.url?scp=84883548707&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84883548707&partnerID=8YFLogxK
U2 - 10.1007/s10072-011-0900-1
DO - 10.1007/s10072-011-0900-1
M3 - Article
C2 - 22190129
AN - SCOPUS:84883548707
VL - 33
SP - 1383
EP - 1387
JO - Neurological Sciences
JF - Neurological Sciences
SN - 1590-1874
IS - 6
ER -