Multiple acylCoA dehydrogenase deficiency (MADD; Glutaricaciduria IIA) l Electron transfer flavoprotein, polypeptide (ETFA) ; Chromosome 15q23-q25; Recessive Allelic with: Coenzyme Q10 deficiency Clinical Onset age Usual: Adult; 3rd & 4th decade Range: 6 to 64 years Myopathy2 Proximal Weakness: May become severe Myalgias: Some patients Progression: Subacute over months Laboratory Urine: High glutaric & ethylmalonic acids Consistent with defective dehydrogenation of isovaleryl CoA & butyryl CoA Serum CK: High; 2x to 20x EMG: Myopathic, Neuropathic or Normal Muscle biochemistry Carnitine levels Reduced Catalytic activity of mitochondrial complex I Reduced Muscle pathology Lipid storage: Type 1 fibers ? Vacuolar myopathy SDH stain: Reduced intensity Treatment Riboflavin (100 mg/day) Carnitine (4 g/day) Coenzyme Q10 Neonatal forms: Features Acidosis Hypoglycemia Sweaty feet odor Death Climb National Information Centre forMetabolic DiseasesMultiple Acyl-CoA Dehydrogenase DeficiencyOther names that may be used for this disorder are: Deficiency of Electron Transfer Flavoprotein Deficiency of Electron Transfer Flavoprotein: Ubiquinone Oxidoreductase GA II Glutaric Acidemia II Glutaric Aciduria II MADD Multiple Acyl-CoA Dehydrogenation DeficiencyMultiple Acyl-CoA Dehydrogenase Deficiency is a rare disorder that belongs to a group of disorders known as the Organic Acidaemias but is sometimes also included with the fatty acid oxidation defects. It can be caused by a deficiency in either the electron transfer flavoprotein (ETF) enzyme or the ETF-ubiquinone oxidoreductase (ETF:QO) enzyme. This results in a build up of organic acids in the blood and urine. There are two forms of multiple acyl-CoA dehydrogenase deficiency; a neonatal form which is a complete deficiency of the enzyme and is often fatal during the newborn period. A late onset form which is less severe and can present at any age (infancy to adulthood) depending largely on the degree of severity of the defect coupled to interactions with environmental factors e.g.incidence of infections, dietary intake etc.This disorder is usually treated with a high carbohydrate, low protein diet that is low in fat. In addition, riboflavin, glycine and carnitine supplements may also be prescribed. Those affected by this disorder should eat regularly and may need to have food during the night to avoid low blood sugar. Early diagnosis and treatment may change the natural history of this disorder.This information is fully sourced and referenced, for more detailed information and references please contact CLIMB by email, letter or telephone.Climb National Information Centre for Metabolic DiseasesClimb Building, 176 Nantwich Road, Crewe, Cheshire, CW2 6BG, UKFreephone: 0800 652 3181Email: ir.svcs@climb.org.ukClimb is the only charity in the United Kingdom that provides support on allMetabolic Diseases with links worldwideRegistered Charity No. 1089588. Company Limited by Guarantee No. 4267454 acidemia glutarica tipo IISe presenta en 2 formas: La primera es la aciduria glutarica tipo IIA (GA IIA), o forma neonatal, caracterizada por grandes cantidades de acido glutarico en sangre y orina, debido a un defecto en la ruptura de los compuestos de acil-CoA. La segunda es la aciduria glutarica tipo IIB (GA IIB) o forma del adulto en la que los primeros sintomas pueden aparecer entre el ano y medio y los 30 anos de edad. Durante la infancia se observa solo un retraso en la adquisicion de las