Hyperprolinemia
Hyperprolinemia (pronounced: hi-per-pro-lin-e-mia) is a rare genetic metabolic disorder characterized by the excessive accumulation of the amino acid proline in the blood.
Etymology
The term "Hyperprolinemia" is derived from the Greek words "hyper" meaning over or above, "proline" which is a type of amino acid, and "emia" meaning presence in blood.
Types
There are two types of Hyperprolinemia: Type I and Type II.
- Type I is the milder form of the disorder and may not cause symptoms or health problems. It is caused by a deficiency of the enzyme proline dehydrogenase which is responsible for the first step in the breakdown of proline.
- Type II is a more severe form of the disorder and is associated with intellectual disability and seizures. It is caused by a deficiency of the enzyme pyrroline-5-carboxylate dehydrogenase, which is responsible for the second step in the breakdown of proline.
Symptoms
The symptoms of Hyperprolinemia can vary greatly from person to person. Some individuals may be asymptomatic, while others may experience neurological symptoms such as seizures, intellectual disability, and developmental delay.
Diagnosis
Hyperprolinemia is typically diagnosed through a blood test that measures the level of proline in the blood. Genetic testing may also be used to confirm the diagnosis and identify the specific type of Hyperprolinemia.
Treatment
There is currently no cure for Hyperprolinemia. Treatment is focused on managing the symptoms and preventing complications. This may include medications to control seizures and special education services for those with intellectual disability.
See Also
External links
- Medical encyclopedia article on Hyperprolinemia
- Wikipedia's article - Hyperprolinemia
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