What is Glutaryl-CoA dehydrogenase deficiency / Glutaric aciduria type 1

Glutaryl-CoA dehydrogenase deficiency, also known as Glutaric aciduria type 1, is a rare genetic disorder that affects the body's ability to break down certain amino acids. This condition is caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase, which is involved in the metabolism of lysine, hydroxylysine, and tryptophan.

Individuals with this condition are unable to properly process these amino acids, leading to a buildup of toxic substances in the body. This can result in a wide range of symptoms, including developmental delays, movement disorders, muscle stiffness, and seizures.

Glutaric aciduria type 1 is typically diagnosed in infancy or early childhood through newborn screening or when symptoms become apparent. Early detection and treatment are crucial to prevent or minimize the development of neurological damage.

Treatment for this condition involves a strict low-lysine diet, along with the supplementation of certain vitamins and carnitine. Regular monitoring and management of symptoms are necessary to optimize the individual's health and well-being.

While Glutaryl-CoA dehydrogenase deficiency is a challenging condition, with proper medical care and support, individuals affected by it can lead fulfilling lives.