Glutaric acidemia type 2

Glutaric acidemia type 2 is an genetic disorder that is characterised by defects in the ability of the body to use proteins and fats for energy. Incompletely processed proteins and fats can build up, leading to a dangerous chemical imbalance called acidosis. Glutaric acidemia type 2 often appears in infancy as a sudden metabolic crisis, in which acidosis and low blood sugar (hypoglycemia) cause weakness, behavior changes, and vomiting. There may also be enlargement of the liver, heart failure, and a characteristic odor resembling that of sweaty feet. Some infants with glutaric acidemia type 2 have birth defects, including multiple fluid-filled growths in the kidneys (polycystic kidneys). Glutaric acidemia type 2 is a very rare disorder. Its precise incidence is unknown. It has been reported in several different ethnic groups.

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Genetics

Mutations in the ETFA, ETFB, and ETFDH genes cause glutaric acidemia type II. Glutaric acidemia type 2 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 acidemia type II.

This condition is inherited in an autosomal recessive pattern, which means that 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 themselves.