Glutaric Acidaemia

What is glutaric acidaemia type II?

Glutaric acidaemia type II is an inherited disorder that interferes with the body's ability to use proteins and fats for energy. Incompletely processed proteins and fats can build up, leading to a dangerous chemical imbalance called acidosis. Glutaric acidaemia type II often appears in infancy as a sudden metabolic crisis, in which acidosis and low blood sugar (hypoglycemia) cause weakness, behaviour changes, and vomiting. There may also be enlargement of the liver, heart failure, and a characteristic odour resembling that of sweaty feet. Some infants with glutaric acidaemia type II have birth defects, including multiple fluid-filled growths in the kidneys (polycystic kidneys).

How common is glutaric acidaemia type II?

Glutaric acidaemia type II is a very rare disorder. Its precise incidence is unknown. It has been reported in several different ethnic groups.

What genes are related to glutaric acidaemia type II?

Mutations in the ETFA, ETFB, and ETFDH genes cause glutaric acidaemia type II.

Glutaric acidaemia type II is caused by a deficiency in either of two enzymes, called electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase. These enzymes are normally active in the mitochondria, which are the energy-producing centers of cells. When one of these enzymes is defective or missing, partially broken down nutrients accumulate in the cells and damage them, causing the signs and symptoms of glutaric acidaemia type II.

Mutations in any of three genes can result in glutaric acidaemia type II. The ETFA and ETFB genes provide instructions for producing two protein segments, or subunits, that come together to make electron transfer flavoprotein. The ETFDH gene provides instructions for making electron transfer flavoprotein dehydrogenase.

How do people inherit glutaric acidaemia type II?

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

What other names do people use for glutaric acidaemia type II?

• Electron transfer flavoprotein deficiency
• EMA
• ETFA deficiency
• ETFB deficiency
• ETFDH deficiency
• Ethylmalonic-adipicaciduria
• GA II
• Glutaric acidaemia, type 2
• Glutaric aciduria, type 2
• MADD
• MAD - Multiple acyl-CoA dehydrogenase deficiency