Hyperlysinemia
Hyperlysinemia is a rare genetic disorder characterized by an excess of the amino acid lysine in the blood. The condition is caused by a deficiency in the enzyme lysine-ketoglutarate reductase, which is responsible for the breakdown of lysine.
Pronunciation
Hyperlysinemia is pronounced as hi-per-li-sin-e-mia.
Etymology
The term "Hyperlysinemia" is derived from the Greek words "hyper" meaning over or above, "lysin" referring to the amino acid lysine, and "emia" meaning condition of the blood.
Symptoms
Symptoms of hyperlysinemia can vary greatly among individuals. Some people may show no symptoms, while others may experience developmental delay, seizures, behavioral problems, and learning difficulties.
Diagnosis
Hyperlysinemia is typically diagnosed through a blood test that measures the levels of amino acids in the blood. A high level of lysine in the blood is indicative of hyperlysinemia.
Treatment
There is currently no cure for hyperlysinemia. Treatment is focused on managing symptoms and may include dietary restrictions to limit the intake of lysine.
Related Terms
External links
- Medical encyclopedia article on Hyperlysinemia
- Wikipedia's article - Hyperlysinemia
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