نتایج جستجو برای: glutaric aciduria
تعداد نتایج: 1568 فیلتر نتایج به سال:
Glutaric acidemia type I (GA-I) is an inherited disorder of lysine and tryptophan metabolism presenting with striatal lesions anatomically and symptomatically similar to Huntington disease. Affected children commonly suffer acute brain injury in the context of a catabolic state associated with nonspecific illness. The mechanisms underlying injury and age-dependent susceptibility have been unkno...
Introduction : Acute hemiparesis is an emergency of various etiologies and possible fatal outcome. Aim The aim this study was to determine the etiology, clinical manifestations, prognosis acute in childhood. Materials methods This a retrospective 52 children (28 boys 24 girls) aged 4 months 16 yrs 11 with hemiparesis, admitted Clinic Pediatrics at St George University Hospital between 2013 2020...
Coenzyme Q10 (CoQ10) deficiency is an autosomal recessive disorder with heterogenous phenotypic manifestations and genetic background. We describe seven patients from five independent families with an isolated myopathic phenotype of CoQ10 deficiency. The clinical, histological and biochemical presentation of our patients was very homogenous. All patients presented with exercise intolerance, fat...
Oxidation of the FAD cofactor to the 8-formyl-derivative in human electron-transferring flavoprotein
The heterodimeric human (h) electron-transferring flavoprotein (ETF) transfers electrons from at least 13 different flavin dehydrogenases to the mitochondrial respiratory chain through a non-covalently bound FAD cofactor. Here, we describe the discovery of an irreversible and pH-dependent oxidation of the 8α-methyl group to 8-formyl-FAD (8f-FAD), which represents a unique chemical modification ...
2-Hydroxybutyric acid appears at high concentrations in situations related to deficient energy metabolism (e.g., birth asphyxia) and also in inherited metabolic diseases affecting the central nervous system during neonatal development, such as "cerebral" lactic acidosis, glutaric aciduria type II, dihydrolipoyl dehydrogenase (E3) deficiency, and propionic acidemia. The present study was carried...
Glutaric acidemia type I (GA-I) is an inherited neurometabolic childhood disorder caused by defective activity of glutaryl CoA dehydrogenase (GCDH) which disturb lysine (Lys) and tryptophan catabolism leading to neurotoxic accumulation of glutaric acid (GA) and related metabolites. However, it remains unknown whether GA toxicity is due to direct effects on vulnerable neurons or mediated by GA-i...
INTRODUCTION: Glutaric Acidemia type I (GA-1) is an inborn error of lysine, hydroxylysine and tryptophan catabolism. Due to deficiency in glutarylCoA dehydrogenase (Gcdh), these amino acids can not be completely catabolized and lead to accumulation of glutaric acid in the brain, blood and urine. The world wide prevalence is approximately 1:30,000. The common findings at autopsy are severe neuro...
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