Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.
Summary of "Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect."
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.
Affiliation
Clinical Neurology, Section for Neuromuscular Diseaseas and Neuropathies, University Hospital "Spedali Civili", Pz.le Spedali Civili 1, 25100, Brescia, Italy.
Journal Details
This article was published in the following journal.
Name: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiol
ISSN: 1590-3478
Pages:
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/22190129
- DOI: http://dx.doi.org/10.1007/s10072-011-0900-1
Medical and Biotech [MESH] Definitions
Riboflavin Deficiency
A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1).
Dihydropyrimidine Dehydrogenase Deficiency
An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity.
Flavin Mononucleotide
A coenzyme for a number of oxidative enzymes including NADH DEHYDROGENASE. It is the principal form in which RIBOFLAVIN is found in cells and tissues.
Glucosephosphate Dehydrogenase Deficiency
A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of enzyme activity in erythrocytes, leading to hemolytic anemia.
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