Glutaric Acidemia Type 2 - Genetics

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 the defective gene is located on an autosome, and two copies of the gene - one from each parent - are needed to inherit the disorder. The parents of an individual with an autosomal recessive disorder are carriers of one copy of the defective gene, but do not show signs and symptoms of the disorder themselves.