Carnosinemia

Definition

Definition of Carnosinemia
Carnosinemia, also called carnosinase deficiency or aminoacyl-histidine dipeptidase deficiency, is a rare autosomal recessive metabolic disorder caused by a deficiency of carnosinase, a dipeptidase (a type of enzyme that splits dipeptides into their two amino acid constituents).

Carnosine is a dipeptide composed of beta-alanine and histidine, and is found in skeletal muscle and cells of the nervous system. This disorder results in an excess of carnosine in the urine, cerebrospinal fluid (CSF), blood and nervous tissue. Neurological disorders associated with a deficiency of carnosinase, and the resulting carnosinemia ("carnosine in the blood") are common.

Symptoms

Symptoms of Carnosinemia
A variety of neurological symptoms have been associated with carnosinemia. They include: hypotonia, developmental delay, mental retardation, degeneration of axons, sensory neuropathy, tremors, demyelinization, gray matter anomalies, myoclonic seizures, and loss of purkinje fibers.

Causes

Causes of Carnosinemia
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.

Diagnosis

Diagnosis of Carnosinemia
Diagnosis is based on amino acid analysis of serum and/or urine after exclusion of meat from the diet, and enzymatic testing. The differential diagnosis includes gamma-amino butyric acid (GABA) transaminase deficiency.

Treatment

Treatment of Carnosinemia
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.

Prognosis

Prognosis of Carnosinemia
Consult with your doctor.

Prevention

Prevention of Carnosinemia
Consult with your doctor.