Diseases Studied
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All Diseases > Glutaric aciduria type 1
Glutaric aciduria type 1
Disease Category: Organic Acidemias
Glutaryl-CoA dehydrogenase deficiency is a genetic metabolic disorder. People with Glutaryl-CoA dehydrogenase deficiency don't make enough of one of the enzymes needed to break down certain amino acids found in the proteins we eat. Without enough of the enzyme, the breakdown products of these amino acids build up in tissues of the body. The buildup of these chemicals can damage the brain, especially the area of the brain called the basal ganglia. The basal ganglia helps control the body's movements. Other early symptoms may include weak muscles and early signs of developmental delay. An infection or fever may trigger an episode that causes serious damage to the basal ganglia. In some children, the brain damage will happen without a triggering fever. Damage to the basal ganglia will make it hard for the child to control the movements of their body. Glutaryl-CoA dehydrogenase deficiency is caused by genetic changes in the GCDH gene and is inherited in an autosomal recessive manner. Glutaryl-CoA dehydrogenase deficiency is included on the newborn screening panel in most countries.
