How do I know if I have 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 responsible for the metabolism of the amino acids lysine, hydroxylysine, and tryptophan.

Glutaric aciduria type 1 is typically diagnosed in infancy or early childhood. The symptoms can vary widely from person to person, but some common signs include:

• Developmental delays: Children with this condition may experience delays in reaching developmental milestones such as sitting, crawling, and walking.


• Muscle stiffness: Some individuals may have muscle stiffness or rigidity, making movements difficult.


• Seizures: Seizures can occur in some cases of glutaric aciduria type 1.


• Macrocephaly: An unusually large head size, known as macrocephaly, is a common feature of this condition.


• Acute episodes: During times of illness or other stressors, affected individuals may experience acute episodes characterized by a sudden worsening of symptoms, including severe muscle rigidity, high fever, and changes in consciousness.

If you suspect that you or your child may have glutaryl-CoA dehydrogenase deficiency, it is important to consult with a healthcare professional. The diagnosis of this condition involves a combination of clinical evaluation, biochemical testing, and genetic testing.

During the clinical evaluation, the doctor will assess the individual's medical history, perform a physical examination, and look for characteristic signs and symptoms. Biochemical testing involves analyzing urine and blood samples to measure the levels of certain organic acids, such as glutaric acid, which are elevated in individuals with this condition.

Genetic testing is the most definitive method of diagnosing glutaric aciduria type 1. It involves analyzing the individual's DNA to identify mutations in the gene responsible for producing the glutaryl-CoA dehydrogenase enzyme.

Early diagnosis and treatment are crucial in managing glutaryl-CoA dehydrogenase deficiency. Treatment typically involves a specialized diet low in lysine, hydroxylysine, and tryptophan, as well as the supplementation of certain vitamins and cofactors to support metabolic processes.

It is important to consult with a healthcare professional for an accurate diagnosis and appropriate management of glutaryl-CoA dehydrogenase deficiency.