Carnosinemia
Carnosinemia
Carnosinemia (pronounced: car-no-sin-e-mia) is a rare metabolic disorder characterized by an excess of the dipeptide carnosine in the blood.
Etymology
The term "Carnosinemia" is derived from the word "Carnosine", a compound discovered in 1900 by the Russian chemist V.Gulevich. The suffix "-emia" is derived from the Greek word "haima" meaning blood. Thus, Carnosinemia literally means "Carnosine in the blood".
Definition
Carnosinemia is a condition that results from the accumulation of carnosine in the blood. This is typically due to a deficiency in the enzyme carnosinase, which is responsible for breaking down carnosine in the body.
Symptoms
The symptoms of Carnosinemia can vary greatly from person to person. Some individuals may experience no symptoms, while others may have neurological symptoms such as seizures, developmental delay, and intellectual disability.
Diagnosis
Diagnosis of Carnosinemia is typically made through a blood test that measures the levels of carnosine in the blood. Genetic testing may also be used to identify mutations in the CNDP1 gene, which encodes the carnosinase enzyme.
Treatment
There is currently no cure for Carnosinemia. Treatment is typically focused on managing symptoms and may include dietary modifications, medications to control seizures, and physical and occupational therapy to help with developmental delays.
Related Terms
External links
- Medical encyclopedia article on Carnosinemia
- Wikipedia's article - Carnosinemia
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