Carnosinemia

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 metabolism is basically affected by this disease and hence also affects various hormones and glands of the human body, dwarfism is also associated with this disease, fragile bones and fatigue are commonly complained during the case history of the patients, bad memory due to neuron deteriorations is also exemplified, seizures as in cases of epilepsy is also evident among its symptoms, involuntary jerking of muscles along with mental retardation is equally prevalent in the patients.

There is however till date no evidence of the gene responsible for Carnosinemia but researches have shown that is a recessive autosomal disease and is transmitted only when the gene responsible is present on both the chromosome of male XY and female XX both male and females can be carrier of this unknown gene and hence, become collectively responsible for the propagating Carnosinemia to future generations. The process can easily be comprehended by a small genetic example; when a carrier male X’Y and a carrier female X’X meet their offspring are X’X’, X’X, X’Y, X’Y in this case one of the four children produced will be affected by Carnosinemia while the rest, will be completely be normal, but, will act as carriers of the gene .

Carnosinemia is also some times referred to as overload carnosine due to its high concentration. Carnosine is an enzyme which is responsible for detoxification of body and due to its alarming density in the body the human body fails to get rid of harmful elements from the body and in turn gets affected by the mentioned characteristics.

Carnosinemia can occur in any individual irrespective of race and sex and since the gene responsible is autosomal the illness is visible from the birth of an individual. 

There is unfortunately no treatment present for this acute illness and whatever aid given medically is on the basis of symptoms and social counseling. In order to prevent further deterioration of the patient they are advised to leave meat and cold fizzy and soft drinks as they are rich in carnosine and may further add fuel to fire.

Modern marvels and advanced scientific research some times become helpless in the face of acute illness such as Carnosinemia and encompasses human visionaries and genetic researchers to dig further deep in the roots of human existence and save it from all together extinction.

Carnosinemia is a rare disease of which not much is known. We aim to understand and discuss Carnosinemia in more detail. 

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