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Glutaric acidemia 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 acidemia type II 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 II have birth defects, including multiple fluid-filled growths in the kidneys (polycystic kidneys).
Glutaric acidemia type II is a very rare disorder. Its precise incidence is unknown. It has been reported in several different ethnic groups.
Mutations in the ETFA, ETFB, and ETFDH genes cause glutaric acidemia type II.
Glutaric acidemia 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 acidemia type II.
Mutations in any of three genes can result in glutaric acidemia 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.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.