P018: Analysis of mitochondrial-targeted antioxidants shows improvement of bioenergetics in glutaric acidemia type 1 patient fibroblasts
Abstract
Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disease caused by the deficiency of glutaryl-CoA dehydrogenase (GCDH), an enzyme in the mitochondrial matrix that converts glutaryl-CoA to crotonyl-CoA as part of the catabolic pathway of the amino acids lysine, hydroxylysine, and tryptophan. GCDH deficiency causes a buildup of glutaric and 3-hydroxi-glutaric acids in urine, plasma, and tissues. GA1 has an estimated frequency of 1 in 30,000–100,000 newborn babies based on newborn screening data, but is more frequent in the Old-Order Amish community of Pennsylvania and the North American Ojibway-Cree in Canada.
Fields of Study & Subjects
Metabolism and Genetic Disorders
Amino Acid Enzymes and Metabolism
Lysosomal Storage Disorders Research
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103509–103509
- Publication date
- 1 January 2026
- Language
- EN