Glutaric aciduria type 1
Glutaric aciduria type 1 (pronounced glu-tar-ic a-cid-u-ria type one), also known as GA1 or glutaric acidemia type 1, is a rare genetic disorder that typically becomes apparent shortly after birth.
Etymology
The term "Glutaric aciduria type 1" is derived from the name of the substance that accumulates in the body, glutaric acid, and the term "aciduria," which refers to an excess of acid in the urine. The "type 1" designation indicates that this is the first variant of the condition that was identified.
Definition
Glutaric aciduria type 1 is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine, and tryptophan. This leads to an accumulation of related chemicals, including a substance called glutaric acid, in the body.
Symptoms
Symptoms of glutaric aciduria type 1 can include developmental delay, movement problems, and a larger than normal head size (macrocephaly).
Causes
Glutaric aciduria type 1 is caused by mutations in the GCDH gene. This gene provides instructions for making an enzyme that is critical for breaking down certain amino acids.
Diagnosis
Diagnosis of glutaric aciduria type 1 is typically made through a combination of clinical examination, biochemical testing, and molecular genetic testing.
Treatment
Treatment for glutaric aciduria type 1 typically involves a low-protein diet, medications, and regular medical monitoring.
Prognosis
The prognosis for individuals with glutaric aciduria type 1 varies. Some individuals have a severe form of the disorder and experience significant neurological problems. Others have a milder form and may live into adulthood with appropriate management.
See also
External links
- Medical encyclopedia article on Glutaric aciduria type 1
- Wikipedia's article - Glutaric aciduria type 1
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