نتایج جستجو برای: neurometabolic
تعداد نتایج: 416 فیلتر نتایج به سال:
Adenylosuccinate lyase (ADSL) deficiency is a rare autosomal recessive neurometabolic disorder that presents with a broad-spectrum of neurological and physiological symptoms. The ADSL gene produces an enzyme with binary molecular roles in de novo purine synthesis and purine nucleotide recycling. The biochemical phenotype of ADSL deficiency, accumulation of SAICAr and succinyladenosine (S-Ado) i...
Cytochrome oxidase is a rate-limiting enzyme in oxidative phosphorylation, the major energy-synthesizing pathway used by the central nervous system, and cytochrome oxidase histochemistry has been extensively utilized to map changes in neural metabolism following experimental manipulations. However, the value of cytochrome oxidase activity in predicting behavior has not been analyzed. We argue t...
Tyrosine hydroxylase deficiency manifests mainly in early childhood and includes two clinical phenotypes: an infantile progressive hypokinetic-rigid syndrome with dystonia (type A) and a neonatal complex encephalopathy (type B). The biochemical diagnostics is exclusively based on the quantitative determination of the neurotransmitters or their met...
OBJECTIVE Propionic acidemia is one of the rare congenital neurometabolic disorders with autosomal recessive inheritance. This disorder is caused by a defect in the propionyl-CoA carboxylase enzyme and can be presented with life-threatening ketoacidosis, lethargy, failure to thrive, and developmental delay. MATERIALS & METHODS The patients diagnosed as having propionic acidemia in Neurology D...
OBJECTIVE Metachromatic leukodystrophy disorder (MLD) is one of the rare neurometabolic diseases caused due to lack of saposin B and arylsulfatase A enzyme deficiency. MATERIALS & METHODS Eighteen patients diagnosed as metachromatic leukodystrophy in the Neurology Department of Mofid Children's Hospital in Tehran, Iran between 2010 and 2014 were included in our study. The disorder was confirm...
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