Glutathione-disulfide reductase

Glutaricaciduria I (also known as Glutaric Acidemia Type I) is a rare genetic disorder characterized by the body's inability to fully break down certain amino acids in proteins. This condition is an inborn error of metabolism, specifically affecting the metabolism of the amino acids lysine, hydroxylysine, and tryptophan.

Etiology

Glutaricaciduria I is caused by mutations in the GCDH gene, which provides instructions for producing an enzyme called glutaryl-CoA dehydrogenase. This enzyme plays a crucial role in breaking down lysine, hydroxylysine, and tryptophan. Mutations in the GCDH gene reduce or eliminate the activity of this enzyme, preventing these amino acids from being metabolized properly. As a result, harmful amounts of glutaric acid and related compounds build up in the body, causing damage to the brain and other organs.

Symptoms

The symptoms of Glutaricaciduria I can vary widely among affected individuals. They typically appear in infancy or early childhood and can include developmental delay, muscle weakness, and movement problems. Some individuals may also have an unusually large head size (macrocephaly) and other physical abnormalities.

Diagnosis and Treatment

Diagnosis of Glutaricaciduria I typically involves genetic testing to identify mutations in the GCDH gene. Treatment is primarily focused on managing symptoms and preventing complications. This may involve dietary restrictions to limit intake of the affected amino acids, medications to help remove excess glutaric acid from the body, and physical therapy to help manage movement problems.

Prognosis

The prognosis for individuals with Glutaricaciduria I can vary widely, depending on the severity of symptoms and the effectiveness of treatment. With early diagnosis and appropriate management, many individuals with this condition can lead relatively normal lives.

See Also

• Inborn errors of metabolism
• Amino acid metabolism disorders
• Genetic testing

NIH genetic and rare disease info

• NIH info on Glutathione-disulfide reductase

Glutathione-disulfide reductase is a rare disease.