Glutaric aciduria type 1

Glutaric aciduria type 1 is a rare genetic disorder that affects the body's ability to break down certain proteins. It is characterized by a deficiency of the enzyme glutaryl-CoA dehydrogenase, which is involved in the breakdown of the amino acids lysine, hydroxylysine, and tryptophan. This deficiency leads to an accumulation of glutaric acid, 3-hydroxyglutaric acid, and glutaconic acid in the body, which can cause a variety of symptoms.

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Symptoms

The symptoms of glutaric aciduria type 1 can vary widely, but they typically include macrocephaly (an unusually large head), developmental delay, and movement disorders. Other symptoms can include seizures, spasticity (stiff or rigid muscles), and dystonia (involuntary muscle contractions). In severe cases, the condition can lead to coma or death.

Causes

Glutaric aciduria type 1 is caused by mutations in the GCDH gene, which provides instructions for making the enzyme glutaryl-CoA dehydrogenase. This enzyme is involved in the breakdown of certain amino acids. When the GCDH gene is mutated, the enzyme's activity is reduced or eliminated, leading to an accumulation of harmful substances in the body.

Diagnosis

The diagnosis of glutaric aciduria type 1 is typically made through a combination of clinical examination, biochemical testing, and genetic testing. Biochemical testing involves measuring the levels of certain substances in the body, while genetic testing involves looking for mutations in the GCDH gene.

Treatment

There is currently no cure for glutaric aciduria type 1, but the condition can be managed with a combination of dietary restrictions, medications, and physical therapy. Dietary restrictions typically involve limiting the intake of certain amino acids, while medications can help manage symptoms such as seizures and movement disorders. Physical therapy can help improve muscle tone and coordination.

See also

• Amino acid metabolism disorder
• Inborn errors of metabolism
• Lysine
• Tryptophan

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