Glutaric Aciduria 1

Glutaric Acidemia I


Type of disease: Rare conditions

Glutaric acidemia type I is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. Excessive levels of these amino acids and their intermediate breakdown products can accumulate and cause damage to the brain, particularly the basal ganglia, which are regions that help control movement. Intellectual disability may also occur. Glutaric acidemia type I is caused by mutations in the GCDH gene. The condition is inherited in an autosomal recessive manner. Strict dietary control may help limit progression of the neurological damage. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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