Lack ornitintranskarbamilazy

August 12, 2017 17:51 | Genetic Diseases

disease was first described in 1962, at the 1983 data, at all described in the literature about 510 cases of this disease metabolism.Ornitintranskarbamilazy deficiency may be inherited in an autosomal recessive, autosomal dominant and clutch with an X-linked dominant types.In the latter case there is an early death in males.

primary biochemical defect in this disease is the lack of protein metabolism enzyme activity ornitintranskarbamilazy that provides education citrulline protein.This enzyme is mainly in the liver.Less of it is located in the small intestine, and the minimum - in the brain and other tissues.

Symptoms of the disease, which can be found in a human patient include: sudden depression of the central nervous system (until Tuesday), vomiting, convulsions, mental retardation.At an early form of the disease, which is found only in newborn boys, the first manifestations of ornitintranskarbamilazy failure are: vomiting, the occurrence of seizures, coma.All of these symptoms appear in a child al

ready in the second or third day of life, and the disease is extremely difficult and results in death.An early sign is also the respiratory distress.In case of a later onset of the disease, which in most cases coincides with the transfer of the child to a mixed or artificial feeding, the addition of other diseases or surgery, it is manifested bouts of vomiting, a pronounced inhibition of the central nervous system up to coma, cramps, lag in physical andpsychomotor development, an increase in liver size.Some children with this disease, the only symptom may be an aversion to meat and other foods rich in protein.The mental development of the child in this case is normal.

treatment is in compliance with the low protein diet.In the acute period used peritoneal dialysis, hemodialysis.