The condition is inherited in an autosomal recessive pattern: mutated copies of the gene GCDH must be provided by both parents to cause<unk> . The GCDH gene encodes the enzyme glutaryl-CoA dehydrogenase. This enzyme is involved in degrading the amino acids lysine, hydroxylysine and tryptophan. Mutations in the GCDH gene prevent production of the enzyme or result in the production of a defective enzyme with very low residual activity, or an enzyme with relatively high residual activity but still phenotypic consequences. This enzyme deficiency allows<unk>  acid, 3-hydroxyglutaric acid and to a lesser extent glutaconic acid to build up to abnormal levels, especially at times when the body is under stress. These intermediate breakdown products are particularly prone to affect the basal ganglia, causing many of the signs and symptoms of<unk> .<unk>  occurs in approximately<unk>  of every 30,000 to 40,000 births. As a result of founder effect, it is much more common in the Amish community and in the Ojibway population of Canada, where up to<unk>  in 300 newborns may be affected. Relatives of children with<unk>  can have low GCDH activity: in an early study of<unk> , GCDH activity was found to be 38%, 42%, and 42% in three of the four unaffected relatives tested, a pattern consistent with the 50% level that would be expected in heterozygous carriers. Those levels are close to those found in some heavily symptomatic<unk> -affected children.
Glutaric aciduria type 1
Aspartylglucosaminuria
Hawkinsinuria
Alkaptonuria
Homocystinuria
2-Hydroxyglutaric aciduria
Essential fructosuria
Phenylketonuria