Giperargininemiya

Description:

Giperargininemiya (insufficiency of an arginase) is inherited as an autosomal recessive character. The person has two arginases which are coded by different genes, one of them, cytosolic expresses in erythrocytes, and the second is localized in miyotokhondriya of kidneys. The gene of cytosolic enzyme which neyodostatochnost defines a giperargininemiya is mapped on a long limb 6. At different patients its several razyolichny mutations are revealed.

Arginine – conditionally irreplaceable amino acid since it is not synthesized in a children's organism, can be metabolized in an organism from citrulline.
Normal content of arginine in blood sera – 91,8-172,2 µmol/l.

Sometimes the daily diet contains insufficient amount of arginine for normal course of metabolic processes in an organism. With an active growth, sports activities, recovery after injuries and at process of healing of wounds arginine becomes irreplaceable amino acid and its additional introduction to a diet is required.

Giperargininemiya symptoms:

Clinical manifestations of this rare soyostoyaniye differ from symptoms of other disturbances of a cycle of urea markedly. The disease razyovivatsya imperceptibly: throughout the first mesyayoets, and sometimes and years symptoms usually otsutstvuyot. The progressing spastic paraplegia with the legs crossing in the form of scissors, the choreoathetoid movements and inability of a priyoobreteniye of the main skills at earlier healthy child point to degenerative changes in TsNS. Two children for a number of years наблюда­лись with the diagnosis of a cerebral palsy, to a prezhyoda what at them confirmed insufficiency of an arginase. Mental retardation at a giperargininemiya progresses, quite often there are spasms, but attacks of a tyazheyoly giperammoniyemiya usually are absent. Inoyogda is marked out a hepatomegalia.

Diagnosis:

At laboratory researches obnaruzhiyovat a significant amount of arginine in plasma and SMZh. In urine moderately poyovysheno the content of orotovy acid. Ammonia level in plasma is normal or slightly increased. Excretion of arginine, a lysine, cystine and ornithine with urine usually increases, but can оставать­ся normal. Therefore major importance for the diagnosis has concentration definition ами­нокислот in plasma. In urine the level of guanidinovy connections is significantly increased (and - ketoguanidinevalerian and argininovy acids). The diagnosis is confirmed by definition of activity of an aryoginaza in erythrocytes. The possibility of prenatal diagnosis is unknown.

Treatment of a giperargininemiya:

Treatment comes down to the diet deprived of an arginiyon. Feeding of the child the synthetic protein containing irreplaceable amino acids obychyono leads to sharp decrease in concentration of arginine in plasma and to mitigation of neurologic symptoms. The structure of a diet at a giperargininemiya and daily consumption of protein needs to be controlled, periodically determining the level of amino acids in plasma. In the presence of a giperammoniyemiya use sodium benzoate (250-375 mg/kg in days).