What is the prevalence of Glutaryl-CoA dehydrogenase deficiency / Glutaric aciduria type 1?
How many people does Glutaryl-CoA dehydrogenase deficiency / Glutaric aciduria type 1 affect? Does it have the same prevalence in men and women? And in the different countries?
Glutaryl-CoA dehydrogenase deficiency, also known as Glutaric aciduria type 1, is a rare inherited metabolic disorder. It is caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase, leading to the accumulation of certain organic acids in the body. The prevalence of this condition varies among different populations. In the general population, it is estimated to affect approximately 1 in 100,000 to 1 in 200,000 individuals. However, in certain populations with a higher frequency of consanguineous marriages, the prevalence can be higher. Early diagnosis and treatment are crucial to prevent severe neurological complications associated with this disorder.
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 mutations in the GCDH gene, which leads to a deficiency in the enzyme glutaryl-CoA dehydrogenase.
The prevalence of Glutaryl-CoA dehydrogenase deficiency varies among different populations. It is estimated to occur in approximately 1 in 30,000 to 40,000 newborns worldwide. However, the prevalence may be higher in certain populations with a higher rate of consanguineous marriages.
Glutaric aciduria type 1 is more commonly observed in individuals of European and Amish/Mennonite descent. In these populations, the prevalence can be as high as 1 in 5,000 to 10,000 newborns.
Early diagnosis and treatment are crucial for individuals with Glutaryl-CoA dehydrogenase deficiency. Without proper management, this condition can lead to severe neurological complications, including movement disorders and intellectual disabilities.
It is important for healthcare professionals to be aware of the prevalence of this disorder and consider it in the differential diagnosis of individuals presenting with relevant symptoms.
