What is Carnosinemia?

Beta-Alanine-Pyruvate Aminotransferase
Carnosinase Deficiency
Hyper-Beta Carnosinemia
Serum Carnosinase Deficiency

The disease is rarest of rare and till date only 30 patients have been reported positive from the time of its discovery. The symptoms of the disease are some what similar to alzemier disease of the brain and hence are similarly marked by degeneration of neurons and mortar cells in the central nervous system. The [...]

A disorder of the metabolic resulting due to the deficiency of an enzyme called Carnosinase deficiency that causes increased levels of excess of carnosine in the urine, cerebrospinal fluid, blood and nervous tissue.
Carnosinemia is derived from two words carnosinase and anemia carnosinase is an enzyme while anemia simply correlates to deficiency. It is a rare [...]