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O que (quem) é 2-Hydroxyglutaric aciduria - definição
2-Hydroxyglutaric aciduria
AMINO ACID METABOLIC DISORDER THAT IS AN AUTOSOMAL RECESSIVE NEUROMETABOLIC DISORDER CHARACTERIZED BY THE SIGNIFICANT ELEVATION OF URINARY LEVELS OF HYDROXYGLUTARIC ACID CAUSING PROGRESSIVE BRAIN DAMAGE
L2-hydroxyglutaricaciduria; D2-hydroxyglutaricaciduria; 2-hydroxyglutaricaciduria; 2-Hydroxyglutaricaciduria; L-2-hydroxyglutaric aciduria; D-2-hydroxyglutaric aciduria; 2-HGA
2-hydroxyglutaric aciduria is a rare neurometabolic disorder characterized by the significantly elevated levels of hydroxyglutaric acid in one's urine. It is either autosomal recessive or autosomal dominant.
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.
Glutaric aciduria type 1
GLUTARYL-COA DEHYDROGENASE (GCDH) DEFICIENCY (GDD) IS AN AUTOSOMAL RECESSIVE NEUROMETABOLIC DISORDER CLINICALLY CHARACTERIZED BY ENCEPHALOPATHIC CRISES RESULTING IN STRIATAL INJURY AND A SEVERE DYSTONIC DYSKINETIC MOVEMENT DISORDER
Glutaryl-CoA dehydrogenase deficiency; Glutaric acidemia I; Glutaric aciduria I; Glutaric acidemia type I; Glutaric aciduria; Glutaric acidemia type 1; Glutari aciduria; Glutaric acidemia
Glutaric acidemia type 1 (GA1) is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan. Excessive levels of their intermediate breakdown products (glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid, glutaconic acid) can accumulate and cause damage to the brain (and also other organs), but particularly the basal ganglia, which are regions that help regulate movement.
