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Что (кто) такое 3-Methylglutaconic aciduria - определение
3-Methylglutaconic aciduria
ORGANIC ACIDEMIA THAT IS CHARACTERIZED BY ELEVATED LEVELS OF 3-METHYLGLUTACONIC ACID AND 3-METHYLGLUTARIC ACID IN THE URINE
3-methyl glutaconic aciduria; 3MGA; 3-methylglutaconic aciduria; 3 methylglutaconyl coa hydratase deficiency; 3-Methylglutaconyl-CoA Hydratase Deficiency; 3-Methylglutaconic acidemia; MGA type 1; MGA type I; 3-Methylglutaconic aciduria type I; 3-Methylglutaconic aciduria type III; 3-Methylglutaconic aciduria type 1; 3-Methylglutaconic aciduria type 3; 3-Methylglutaconic aciduria type 4; 3-Methylglutaconic aciduria type IV; 3-Methylglutaconic aciduria type V; 3-Methylglutaconic aciduria type 5; MGA type 3; MGA type 4; MGA type 5; MGA type III; MGA type V; MGA type IV
3-Methylglutaconic aciduria (MGA) is any of at least five metabolic disorders that impair the body's ability to make energy in the mitochondria. As a result of this impairment, 3-methylglutaconic acid and 3-methylglutaric acid build up and can be detected in the urine.
Barth syndrome
LIPID METABOLISM DISORDER THAT HAS MATERIAL BASIS IN X-LINKED INHERITANCE OF THE TAFAZZIN GENE AND IS CHARACTERIZED BY DECREASED PRODUCTION OF AN ENZYME REQUIRED TO PRODUCE CARDIOLIPIN
3-Methylglutaconic aciduria type II; Cardiomyopathy-neutropenia syndrome; 3-Methylglutaconic aciduria type 2; MGA type 2; MGA type II; Barth syndrome (BTHS)
Barth syndrome (BTHS) is a rare but serious X-linked genetic disorder, caused by changes in phospholipid structure and metabolism. It may affect multiple body systems (though mainly characterized by pronounced pediatric-onset cardiomyopathy), and is potentially fatal.
Orotic aciduria
PYRIMIDINE METABOLIC DISORDER THAT IS CHARACTERIZED BY AN EXCESSIVE SECRETION OF OROTIC ACID IN URINE
Orotic aciduria hereditary; Orotic aciduria purines-pyrimidines; Hereditary orotic aciduria
Orotic aciduria (AKA hereditary orotic aciduria) is a disease caused by an enzyme deficiency resulting in a decreased ability to synthesize pyrimidines. It was the first described enzyme deficiency of the de novo pyrimidine synthesis pathway.
