glutaric aciduria - ترجمة إلى العربية
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 aciduria
بِيلَةُ حَمْضِ الغلُوتاريك
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
بِيلَةُ حَمْضِ الأوروتيك
glutaraldehyde
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CHEMICAL COMPOUND
Glutaral; Pentanedial; 1,5-pentanedial; Glutardialdehyde; Glutaric acid dialdehyde; Glutaric aldehyde; Glutaric dialdehyde; Glutural; Gluteraldehyde
غلُوتارالْدِهيد
ويكيبيديا
Glutaric aciduria type 1
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. GA1 causes secondary carnitine deficiency, as glutaric acid, like other organic acids, is detoxified by carnitine. Mental retardation may occur.
GA1 is an autosomal recessive disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase (GCDH), encoded by the GCDH gene.
