Aminoaciduria Arginine-Amber

Arginic-succinic acid aminoacidopathy is a rare hereditary disease that predominantly affects boys in early childhood. It belongs to the group of non-ketotic (non-paroxysmal) amino acidsemia, because there is no triacylamide syndrome - attacks of fatigue with sweating, exhaustion, abdominal pain, eye rolling, episodes of vomiting and clouding of consciousness, often accompanied by drowsiness and decreased concentration. The clinical picture most often manifests itself as severe acid-base imbalances, rapidly increasing decompensation of the carcinoid triad, decreased mental development, respiratory infections, sepsis, thrombocytopenia and signs of intoxication as a result of amino acids detoxified in liver cells. Hyperammonemia is based on the recessive AmiAADMI gene of the ENC1 gene, or a conjugate mutation of the AMT1 gene. Since the disease is severe with a high degree of disability in patients and requires constant treatment, it can now become the object of early diagnosis.

Aminoacidopathic arginine - contains succinic acid and is toxic. This type of hypoglycemic hyperphenylalaninemia is rare in the world and even less known in Russian pediatrics. ***Arginine aminoaciduria - Amber - is also called Anthill Syndrome (Ukrainian: Murash Malyuka - “little ant”), just as in the USA the name Argininosuccinic-Aciduria is predominantly used***. And although there is no clear difference between these names (the second name is not presented in the scientific literature), I will still leave it to you to distinguish between them. Aminoacids in our organs are contained in a bound or activated form, that is, in the form of complex compounds. They are transported and included in active metabolism through specialized transport proteins (transporters). When enzymatic systems are disrupted, various amino acids that do not exist in nature accumulate in the blood (phenylketonuria, glutaric aciduria, etc.), urine *** (argininuria) *** or tissues (galactosemia, etc.), which is accompanied by damage to structures brain, central nervous system.