Argininyantarnaya aciduria

August 12, 2017 17:51 | Genetic Diseases

The disease was first described in 1958, it is transmitted in an autosomal recessive inheritance type.

primary biochemical defect in this type of violation of protein metabolism is a deficiency of the enzyme activity, providing education from the amino acid arginine argininyantarnoy acid.This enzyme can be disposed in such organs and tissues such as the liver, kidney, small intestine, erythrocytes, and skin cells.

degree of severity of the disease can vary from mild to very severe, including death in the first month of life.Those symptoms that occur in a child with the disorder of amino acid metabolism, mainly due to intoxication by substances such as ammonia and argininyantarnaya acid that accumulate in the body in excessive amounts.Deterioration at argininyantarnoy aciduria often develops after a meal rich in protein.

Depending on the timing of the onset of symptoms and the nature of the disease distinguish two forms: acute symptoms in the first few months of life, and with later manifestation of me

tabolic disorders.

Argininyantarnaya aciduria characterized by early-onset rapidly progressive course, and in most cases ends lethal.After a short period of asymptomatic child begins to give up a meal, reduced body weight.Shortly thereafter, the newborn becomes drowsy, there are signs of depression of the central nervous system, which ultimately leads to the development of coma.Quite often, there are also a variety of respiratory disorders, muscle tone decreases, there are cramps, vomiting.The examination revealed an enlarged liver.The cause of death of the child in this form argininyantarnoy aciduria is to stop breathing and the heart that occurs in the first weeks of life.In extremely rare cases, the first symptoms of the disease can appear before the age of 1 month of a child's life, but death does not occur.In this course of the disease the first symptoms in children appear in the form of severe metabolic disorders that manifest disordered breathing (it becomes rapid, shallow, may appear abnormal breathing: the child takes a few breaths that become less deep, and within minutes of not breathing at all,and then it appears again, and the breathing depth gradually increases, and then all over again), cardiac (increased heart rate, it becomes spasmodic, can then attack him slowing), the child's mind (it becomes inhibited, or, conversely, overly excitable, then comesfainting or even coma).Typically, such a pattern develops at 1-2 weeks of age.In the future, these states are repeated periodically, which ultimately leads to delays in psychomotor development of the child from their peers.

second form argininyantarnoy aciduria is characterized by a more recent appearance of typical symptoms in early childhood (1-3 years), and less severe course of disease.At the forefront in this form of the disease out of nervous system symptoms.Such a child may notice the appearance of convulsions, he begins to progressively fall behind in psychomotor development from time to time there may be a violation of coordination of movements ( "drunken walk", trembling fingers, the child misses the mark when trying to touch the tip of the thumb to the tip of the nose, and so on. D.).Hair in these children are dry and brittle, reduced muscle tone.In a study in a medical facility reveal enlarged liver.In the literature there is a description of several children with argininyantarnoy aciduria who remained normal intelligence.

the study of blood and urine samples exhibit large number argininyantarnoy acid and its compounds and ammonia that arises from the accumulation of excess body.

Treatment consists mainly of a diet based on limiting the amount of food rich in protein.Appointment of dietetics requires the development of an individual treatment and diet for each sick child.In addition, the child must be under the control that is carried out by a systematic determination of argininyantarnoy acid and ammonia in the blood and urine.Against the background of compliance with the low protein diet is considered appropriate supplementation of the body argininyantarnoy acid, the amount of which the background diet drops to extremely low levels.