Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect

Neurological Sciences

Volumn 33, Issue 6, 2012, Pages 1383-1387

  Cotelli, Maria Sofia ^a   Vielmi, Valentina ^a   Rimoldi, Marco ^b   Rizzetto, Manuela ^b   Castellotti, Barbara ^b   Bertasi, Valeria ^c   Todeschini, Alice ^a   Gregorelli, Valeria ^a   Baronchelli, Carla ^a   Gellera, Cinzia ^b   Padovani, Alessandro ^a   Filosto, Massimiliano ^a  

^a SPEDALI CIVILI   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c Unit of Neurology   (Italy)

Author keywords

Glutaric aciduria type II; Lipid myopathy; MADD; Riboflavin

Indexed keywords

2 HYDROXYGLUTARIC ACID; COMPLEMENTARY DNA; CREATINE KINASE; GENOMIC DNA; GLUCOSE; LACTATE DEHYDROGENASE; METHYLMALONIC ACID; RIBOFLAVIN; SERTRALINE; ELECTRON TRANSFERRING FLAVOPROTEIN; ELECTRON TRANSFERRING FLAVOPROTEIN DEHYDROGENASE; ELECTRON-TRANSFERRING-FLAVOPROTEIN DEHYDROGENASE; IRON SULFUR PROTEIN; OXIDOREDUCTASE; VITAMIN B COMPLEX;

ADL DISABILITY; ADULT; ARTICLE; CARBOHYDRATE DIET; CASE REPORT; COGNITIVE DEFECT; DEPRESSION; DISEASE COURSE; DRUG EFFECT; DRUG TREATMENT FAILURE; EARLY DIAGNOSIS; ELECTROMYOGRAPHY; ELECTRONEUROGRAPHY; ELECTROSPRAY MASS SPECTROMETRY; EXON; GENE DOSAGE; GENE MUTATION; GENETIC DISORDER; GLUCOSE BLOOD LEVEL; HOLTER MONITORING; HUMAN; HUMAN TISSUE; LIMB WEAKNESS; LIPIDOSIS; LOW BACK PAIN; LOW FAT DIET; LUNG FUNCTION TEST; MALE; MOTOR PERFORMANCE; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PROTEIN RESTRICTION; QUALITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; STANDING; TREATMENT OUTCOME; WALKING DIFFICULTY; WEIGHT LIFTING; GENETICS;

ELECTRON-TRANSFERRING FLAVOPROTEINS; HUMANS; IRON-SULFUR PROTEINS; MALE; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; RIBOFLAVIN; TREATMENT OUTCOME; VITAMIN B COMPLEX; YOUNG ADULT;

EID: 84883548707     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-011-0900-1     Document Type: Article

References (17)

1. Frerman FE, Goodman SI (2001) Defects of electron transfer flavoprotein and electron transfer flavoprotein ubiquinone oxidoreductase: glutaric acidemia type II. In: Scriver CR et al. (eds) The metabolic and molecular bases of inherited diseases. McGraw-Hill, New York, pp 2357-2365
2. Liang WC, Nishino I (2001) Lipid storage myopathy. Curr Neurol Neurosci Rep 1:97-103
3. Yamaguchi S, Orii T, Maeda K, Oshima M, Hashimoto T (1990) A new variant of glutaric aciduria type II: deficiency of betasubunit of electron transfer flavoprotein. J Inherit Metab Dis 13: 783-786
4. Goodman S, Binard R, Woontner M, Frerman F (2002) Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) gene. Mol Genet Metab 77:86-90
5. Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N (2003) Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat 22:12-23
6. Schiff M, Froissart R, Olsen RK, Acquaviva C, Vianey-Saban C (2006) Electron transfer flavoprotein deficiency: functional and molecular aspects. Mol Genet Metab 88:153-158
7. Gregersen N, Rhead W, Christensen E (1990) Riboflavin responsive glutaric aciduria type II. Prog Clin Biol Res 321: 477-494
8. Rhead W, Roettger V, Marshall T, Amendt B (1993) Multiple acyl-coenzyme A dehydrogenation disorder responsive to riboflavin: substrate oxidation, flavin metabolism, and flavoenzyme activities in fibroblasts. Pediatr Res 33:129-135
9. Olsen RK, Olpin SE, Andresen BS et al. (2007) ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 130:2045-2054
10. Colevas AD, Edwards JL, Hruban RH, Mitchell GA, Valle D, Hutchins GM (1988) Glutaric acidemia type II. Comparison of pathologic features in two infants. Arch Pathol Lab Med 112: 1133-1139
11. Angle B, Burton BK (2008) Risk of sudden death and acute lifethreatening events in patients with glutaric acidemia type II. Mol Genet Metab 93:36-39
12. al-Essa MA, Rashed MS, Bakheet SM, Patay ZJ, Ozand PT (2000) Glutaric aciduria type II: observations in seven patients with neonatal-and late-onset disease. J Perinatol 20:120-128
13. Henriques BJ, Rodrigues JV, Olsen RK, Bross P, Gomes CM (2009) Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation. J Biol Chem 284: 4222-4229
14. Law LK, Tang NL, Hui J et al. (2009) Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Clin Chim Acta 404:95-99
15. Wen B, Dai T, Li W et al. (2010) Riboflavin-responsive lipidstorage myopathy caused by ETFDH gene mutations. J Neurol Neurosurg Psychiatry 81:231-236
16. Gempel K, Topaloglu H, Talim B et al. (2007) The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring- flavoprotein dehydrogenase (ETFDH) gene. Brain 130:2037-2044
17. Liang WC, Ohkuma A, Hayashi YK et al. (2009) ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord 19:212-216