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Glutaric Acidemia I
What is Glutaric Acidemia I?
Gluteric acidemia I (GA I) is an inherited disorder in which the body cannot properly process specific proteins due to defects in the enzyme glutaryl-CoA dehydrogenase (GCDH). GCDH is required to break down certain building blocks of proteins. Accumulation of these products causes damage to the brain and other organs. Build up is more significant during times of stress, such as illness or fasting. Damage to the brain can cause affected children to exhibit delays in motor skills, such as crawling and walking, and intellectual impairment. Other symptoms include unusually large heads, decreased muscle tone, seizures, rigidity, spasms, and sometimes abnormal bleeding in the brain. Symptoms usually appear in infancy or early childhood, sometimes not until adulthood. Life expectancy is generally shortened, but with prompt and appropriate treatment during periods of stress and strict diet management, children with GA I may have completely normal growth and development. GA I is caused by pathogenic variants in the GCDH gene.
How is Glutaric Acidemia I inherited?
GA I is inherited in autosomal recessive manner. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. The child must inherit a pathogenic variant from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.
What does it mean to be a carrier?
There are generally no signs or symptoms associated with being a carrier for GA I. However, the risk to have a child affected with GA I is increased. Testing of reproductive partners is recommended for carriers of GA I.
How common is Glutaric Acidemia I?
What is analysed?
|Ethnicity||Detection Rate||Carrier Frequency|
|General Population||> 99%||1 in 112|