Glutaric aciduria type 1
GLUTARYL-COA DEHYDROGENASE (GCDH) DEFICIENCY (GDD) IS AN AUTOSOMAL RECESSIVE NEUROMETABOLIC DISORDER CLINICALLY CHARACTERIZED BY ENCEPHALOPATHIC CRISES RESULTING IN STRIATAL INJURY AND A SEVERE DYSTONIC DYSKINETIC MOVEMENT DISORDER
Glutaryl-CoA dehydrogenase deficiency; Glutaric acidemia I; Glutaric aciduria I; Glutaric acidemia type I; Glutaric aciduria; Glutaric acidemia type 1; Glutari aciduria; Glutaric acidemia
Glutaric acidemia type 1 (GA1) is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan. Excessive levels of their intermediate breakdown products (glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid, glutaconic acid) can accumulate and cause damage to the brain (and also other organs), but particularly the basal ganglia, which are regions that help regulate movement.