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Please note: Clinical mutation analysis for GA II (MADD) is performed by
the UCD DNA Diagnostic Laboratory.

Mutations of Electron Transfer Flavoprotein: Ubiquinone Oxidoreductase:

(Please scroll down for all data)

Exon I:

Intron 1:

Exon II:

Intron 2:

Exon III:

Intron 3:

Exon IV:

Intron 4:

Exon V:

Intron 5:

Exon VI:

Intron 6:

Exon VII:

Intron 7:

Exon VIII:

Intron 8:

Exon IX:

Intron 9:

Exon X:

Intron 10:

Exon XI:

Intron 11:

Exon XII:

Intron 12:

Exon XIII:

Full References

Goodman et al, 2002
Goodman SI, Binard RJ, Woontner MR, and Frerman FE: Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene. Molec Genet & Metab 77 (2002) 86-90.

Olsen et al, 2001
Olsen RKJ, Andresen BS, Christensen E, Sunde L, Nielsen JP, and Gregersen N: Elucidation of the ETF/ETF-QO gene structures enables prenatal diagnosis of the mild form of multiple acyl-CoA dehydrogenation deficiency: DNA-based diagnosis in a pregnancy at risk. J Inherit Metab Dis 24 (2001) Suppl 1, 73 (Abst).

Olsen et al, 2003
Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, and Gregersen N: Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat 22 (2003) 12-23.

Olsen et al, 2004
Olsen RK, Pourfarzam M, Morris AA, Dias RC, Knudsen I, Andresen BS, Gregersen N, Olpin SE: Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency. J Inherit Metab Dis 27 (2004) 671-678.