Reductase Deficiency
Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency: Diagnosis by Measurement of Oxidized and Reduced Pterins in Urine
... from normal subjects and PKU patients is in the tetrahydro form.’ By contrast, in liver biopsies from patients with hyperphenylalaninemia due to dihy- dropteridine reductase deficiency, [r] ...
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High dose androgen therapy in male pseudohermaphroditism due to 5 alpha reductase deficiency and disorders of the androgen receptor
... alpha-reductase deficiency, and two have defects of the androgen receptor (the Reifenstein ...alpha-reductase deficiency and one man with the Reifenstein syndrome significant response ...
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Folate Distribution in Cultured Human Cells: STUDIES ON 5,10 CH2 H4PTEGLU REDUCTASE DEFICIENCY
... We have studied the distribution of folate coenzyme forms in cultured human fibroblasts from control lines and from lines derived from nine patients representing all of the published reports of 5,10-CH 2 -H 4 PteGlu ...
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2,4 Dienoyl coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation
... Several inherited disorders of fatty acid beta-oxidation have been described that relate mainly to saturated precursors. This study is the first report of an enzyme defect related only to unsaturated fatty acid oxidation ...
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Child Neurology: Paroxysmal stiffening, upward gaze, and hypotoniaHallmarks of sepiapterin reductase deficiency
... Extensive diagnostic workup revealed an abnor- mal CSF neurotransmitter pattern with elevated lev- els of sepiapterin, 15.1 nmol/L (normal range: not detectable), and total biopterin 74 nmol/L (10 –50 nmol/L), and low ...
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Multidisciplinary approach and anesthetic management of a surgical cancer patient with methylene tetrahydrofolate reductase deficiency: a case report and review of the literature
... Case presentation: A 65-year-old Caucasian man complained of pain and constipation, attributed to previously diagnosed adenocarcinoma (stage IIB) of the hepatic flexure. An anamnestic investigation showed that he had ...
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Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency: Diagnosis by Enzyme Assays on Dried Blood Spots
... A simple method of DHPR assay using erythrocytes or dried blood spots on filter papers is described.. The mean DHPR activity erythrocytes of con-.[r] ...
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Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report
... level (10.9 nmol/ml; normal, 19.2-32.7 nmol/ml). Cere- brospinal fluid analysis indicated normal values. Gas chromatographic-mass spectrometric urinary metabolome analysis revealed a markedly elevated urinary homocystine ...
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Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency
... We describe 3 patients, 2 siblings and their first- degree cousin, who presented with neurologic symp- toms of variable severity leading to the suspicion of MTHFR deficiency. The diagnosis was hypothesized after ...
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Aldose reductase deficiency in mice protects from ragweed pollen extract (RWE)-induced allergic asthma
... Aldose reductase (AR), an enzyme that reduces glucose to sorbitol in the polyol pathway, has been shown to efficiently reduce lipid aldehydes and their GSH conjugates (Km lipid aldehydes 10-30 μM and Km glucose ...
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Biochemical and anatomical basis of brain dysfunctions caused by cytochrome b5 reductase deficiency or dysregulation
... 5 reductase (Cb 5 R) and cytochrome b 5 (Cb 5 ) are coupled redox systems with a high potential as biomarkers of health and disease in the brain because they regulate metabolic pathways that are essential to ...
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Dihydropteridine Reductase Deficiency Associated With Severe Neurologic Disease and Mild Hyperphenylalaninemia
... per day in combination with carbidopa, a peniph- eral aromatic amino acid decarboxylase inhibitor, at a dosage of 2.5 mg per kilogram of body weight. per day; both were given in two divi[r] ...
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Leaky splicing variant in sepiapterin reductase deficiency
... From the Department of Pediatrics (Y.N., K. Hirohata, R.I., A.O.), Graduate School of Medicine, The University of Tokyo; Department of Human Genetics (K. Hamanaka, S.M., N.M.), Graduate [r] ...
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Folic Acid Nonresponsive Homocystinuria Due to Methylenetetrahydrofolate Reductase Deficiency
... Plasma, urine, and tissue amino acid levels. were determined by methods described previous-.[r] ...
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Molecular genetics of steroid 5 alpha reductase 2 deficiency
... conversion of testosterone to dihydrotestosterone. Inherited defects in the type 2 isozyme lead to male pseudohermaphroditism in which affected males have a normal internal urogenital tract but external genitalia ...
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Underlying Genetic Defects in Diseases of Sexual Development in the Island of Cyprus Support the Founder Effect
... The high prevalence of the NC-CAH p.V281L mutation but also the rarity of CAH large lesions present genetic diversity similar to that observed in the Middle Eastern countries. In addition, the high frequency of the ...
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Induction of a deficiency of steroid delta 4 5 alpha reductase activity in liver by a porphyrinogenic drug
... (uroporphyrinogen-I-synthetase deficiency) of acute intermittent porphyria has become clinically expressed have low levels of hepatic steroid delta4-5alpha-reductase ...5alpha-reductase ...
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The Fumarate Reductase of Bacteroides thetaiotaomicron, unlike That of Escherichia coli, Is Configured so that It Does Not Generate Reactive Oxygen Species
... Several features sustain B. thetaiotaomicron when it enters oxic environments. The fact that ROS formation is proportionate to oxygen level (Fig. 4) has the consequence that stress is lessened in tissues, where oxygen ...
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Accumulation of catechins and expression of catechin synthetic genes in Camellia sinensis at different developmental stages
... anthocyanidin reductase 1, anthocyanidin reductase 2 and leucoanthocyanidin reductase genes were significantly and positively correlated with total catechin contents, suggesting their expression may ...
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ERYTHROCYTE METABOLISM VI SEPARATION OF ERYTHROCYTE ENZYMES FROM HEMOGLOBIN
... The activity of nucleoside phosphorylase, glumoglobin reductase, glutathione reductase in the enzyme protein fraiccose-6-phosphate dehydrogenase, glutathione retion is the same as that f[r] ...
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