GA-1 Natural History Webinar
February 18, 2026
Glutaric acidemia type 1 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. Mental retardation may also occur. The severity of glutaric acidemia type 1 varies widely; some individuals are only mildly affected, while others have severe problems. Some babies with glutaric acidemia type 1 are born with unusually large heads (macrocephaly). Affected individuals may have difficulty moving and may experience spasms, jerking, rigidity or decreased muscle tone. Some individuals with glutaric acidemia have developed bleeding in the brain or eyes that could be mistaken for the effects of child abuse. Strict dietary control may help limit progression of the neurological damage. Stress caused by infection, fever or other demands on the body may lead to worsening of the signs and symptoms, with only partial recovery.
We are recruiting patients and families for the CHARLIE metabolism Project (CHAnging Rare disorder of LysINe metabolism). This is an international collaboration focused on developing novel therapies for patients with pyridoxine-dependent epilepsy (PDE) and glutaric aciduria type I (GA I). Both substrate reduction therapy (an upstream block of lysine metabolism) and gene replacement therapy will be trialed in model systems such as neuronal stem cells, mouse, and zebrafish models. The CHARLIE project is led by Professor Clara van Karnebeek at the University of Amsterdam UMC in the Netherlands.
Although this is a basic-research focused project, we also want to work closely with patients and families in order to describe the needs and wishes of families and to define goals of care that are essential to improve quality of life. This project (referred to as “patients in the lead”) is led by Hanna Dekker who is the director of the VKS (a Dutch patient support organization). https://www.stofwisselingsziekten.nl/
If you are interested in more information or in participating, please contact Dr. Curtis Coughlin II at the University of Colorado (Curtis.Coughlin@cuanschutz.edu, 303.724.3839)
