Climb National Information Centre for

Metabolic Diseases

Multiple Acyl-CoA Dehydrogenase Deficiency

Other 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 Deficiency

Multiple 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 Diseases

Climb Building, 176 Nantwich Road, Crewe, Cheshire, CW2 6BG, UK

Freephone: 0800 652 3181

Email: ir.svcs@climb.org.uk

Climb is the only charity in the United Kingdom that provides support on all

Metabolic Diseases with links worldwide

Registered Charity No. 1089588. Company Limited by Guarantee No. 4267454