Clinic reduces GA1 brain injury risk by 83% with therapies developed over 30 years

A new study summarizes over 30 years of clinical experience in the treatment and management of glutaric acidemia type 1 (GA1), a rare and potentially devastating metabolic disorder caused by variants in the GCDH gene. The study followed the clinical course of 168 individuals with GA1 who were born between 1973 and 2019 and originated from 26 states and 6 countries. Participants were divided into three cohorts based on timing of diagnosis and method of treatment. The study was a broad collaborative effort led by clinicians and researchers at the Clinic for Special Children (CSC) and will appear in Molecular Genetics and Metabolism. It establishes a safe and highly effective standard-of-care for the treatment of GA1, and should serve as a rich and valuable resource for dieticians, physicians, and GA1 families throughout the world for years to come.