resulting in a type I disease phenotype. Even minute amounts of residual ETF/ETFDH activity seemed to be sufficient to prevent embryonic development of congenital anomalies, giving rise to type II disease. Studies of an asp128-to-asn mutation of the ETFB gene (D128N; 130410.0003), identified in a patient with type III disease, showed that the residual activity of the enzyme could be rescued up to 59% of that of wildtype activity when ETFB(D128N)-transformed E. coli cells were grown at low temperature. This suggested that the effect of the ETF/ETFDH genotype in patients with milder forms of MADD, in whom residual enzyme activity allows modulation of the enzymatic phenotype, may be influenced by environmental factors such as cellular temperature.HistoryBack to TopA neonatal lethal form, called 'GA IIA' by Coude et al. (1981), was thought possibly to be X-linked. Coude et al. (1981) reported a pedigree supportive of X-linked inheritance because of the occurrence of a total of 5 proved or presumed cases in 3 sibships related through 5 presumptive carrier females. ('GA IIB' was the designation used by Coude et al. (1981) for a mild form that presented as recurrent hypoglycemia without ketosis and showed a less severe evolution with survival to adulthood.)See AlsoBack to TopGregersen (1985); Jakobs et al. (1984); Mitchell et al. (1983)ReferencesBack to Top1. Amendt, B. A., Rhead, W. J. The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria: mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts. J. Clin. Invest. 78: 205-213, 1986. [PubMed: 3722376]Amendt, B. A., Rhead, W. J. The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria: mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts. J. Clin. Invest. 78: 205-213, 1986. [PubMed: 3722376]2. Angle, B., Burton, B. K. Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. Molec. Genet. Metab. 93: 36-39, 2008. [PubMed: 17977044]Angle, B., Burton, B. K. Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. Molec. Genet. Metab. 93: 36-39, 2008. [PubMed: 17977044]3. Beard, S. E., Spector, E. B., Seltzer, W. K., Frerman, F. E., Goodman, S. I. Mutations in electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) in glutaric acidemia type II (GA2). Clin. Res. 41: 271A, 1993. Beard, S. E., Spector, E. B., Seltzer, W. K., Frerman, F. E., Goodman, S. I. Mutations in electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) in glutaric acidemia type II (GA2). Clin. Res. 41: 271A, 1993. (Not available in PubMed)4. Bohm, N., Uy, J., Kiebling, M., Lehnert, W. Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis. Europ. J. Pediat. 139: 60-65, 1982. [PubMed: 7173260]Bohm, N., Uy, J., Kiebling, M., Lehnert, W. Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis. Europ. J. Pediat. 139: 60-65, 1982. [PubMed: 7173260]5. Colevas, A. D., Edwards, J. L., Hruban,