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Dihydrofolate reductase deficiency information


Dihydrofolate reductase deficiency (DHFR deficiency) is a rare inherited disorder of folate metabolism caused by defects in the DHFR gene. The disorder is inherited in the autosomal recessive manner and may present with megaloblastic anemia, cerebral folate deficiency and neurological symptoms of varying type and severity. The patient may have a developmental delay and develop epileptic seizures.

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Dihydrofolate reductase

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Dihydrofolate reductase, or DHFR, is an enzyme that reduces dihydrofolic acid to tetrahydrofolic acid, using NADPH as an electron donor, which can be...

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Dihydrofolate reductase deficiency

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Dihydrofolate reductase deficiency (DHFR deficiency) is a rare inherited disorder of folate metabolism caused by defects in the DHFR gene. The disorder...

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Methylenetetrahydrofolate reductase

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this gene are associated with methylenetetrahydrofolate reductase deficiency. Complex I deficiency with recessive spastic paraparesis has also been linked...

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Folinic acid

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acid is a form of folic acid that does not require activation by dihydrofolate reductase to be useful to the body. Folinic acid was first made in 1945....

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Trimethoprim

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animals but not humans. It works by blocking folate metabolism via dihydrofolate reductase in some bacteria, preventing creation of bacterial DNA and RNA...

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Folate deficiency

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therapeutic effects of methotrexate are due to its inhibition of dihydrofolate reductase and thereby reduce the rate de novo purine and pyrimidine synthesis...

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Folate

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steps both catalyzed by the same enzyme, dihydrofolate reductase. Folic acid is first reduced to dihydrofolate and then to tetrahydrofolate. Each step...

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Pyrimethamine

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acid, in vivo, without relying on dihydrofolate reductase. Folinic acid reduces side effects related to folate deficiency in the patient. Resistance to pyrimethamine...

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Causes of autism

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kinase deficiency Succinic semialdehyde dehydrogenase deficiency Smith-Lemli-Opitz syndrome Folate receptor 1 gene mutations Dihydrofolate reductase deficiency...

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Neural tube defect

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though at least one study have shown slow and variable activity of dihydrofolate reductase in human liver. A diet rich in natural folate (350 μg/d) can show...

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Vitamer

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to tetrahydrofolate, a second biologically active vitamer, by dihydrofolate reductase. The liver has a limited capacity to metabolize folic acid into...

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International Working Group on Neurotransmitter Related Disorders

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synthase, dihydropteridine reductase, sepiapterin reductase, folate receptor alpha, dihydrofolate reductase, 3-phosphoglycerate dehydrogenase,...

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Tetrahydrobiopterin

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Because of its mechanism, tetrahydrobiopterin might interact with dihydrofolate reductase inhibitors like methotrexate and trimethoprim, and NO-enhancing...

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Delayed milestone

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found to be deficient. dietary restrictions/supplement: a deficiency in dihydrofolate reductase was treated through oral folinic acid supplements enzyme...

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Nicotinamide adenine dinucleotide

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potent inhibitors of the enzymes enoyl-acyl carrier protein reductase, and dihydrofolate reductase. Since many oxidoreductases use NAD+ and NADH as substrates...

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MSH3

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is found on chromosome 5 at location 5q11-q12 upstream of the dihydrofolate reductase (DHFR) gene. MSH3 is encoded by 222,341 base pairs and creates...

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Antifolate

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protozoa and fungi. The majority of antifolates work by inhibiting dihydrofolate reductase (DHFR). Methotrexate Pemetrexed Raltitrexed Pralatrexate Many are...

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Cerebral folate deficiency

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Cerebral folate deficiency is a condition in which concentrations of 5-methyltetrahydrofolate are low in the brain as measured in the cerebral spinal fluid...

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Biosynthesis

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from a deficiency in adenosine deaminase activity, which causes a buildup of dATP. These dATP molecules then inhibit ribonucleotide reductase, which prevents...

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Enzyme

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dihydrofolate reductase, which catalyzes the reduction of dihydrofolate to tetrahydrofolate. The similarity between the structures of dihydrofolate and...

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Purine metabolism

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blocking the metabolism of folic acid (it is an inhibitor of the dihydrofolate reductase). Allopurinol is a drug that inhibits the enzyme xanthine oxidoreductase...

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Mercaptopurine

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increased risk of future cancer and pancreatitis. Those with a genetic deficiency in thiopurine S-methyltransferase are at higher risk of side effects....

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REPIN1

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originally was first identified in a study focusing on replication of dihydrofolate reductase gene (dhfr) in Chinese hamsters, with it initiating near stable...

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Capecitabine

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or complete DPD deficiency; an estimated 0.2% of individuals have complete DPD deficiency. Those with partial or complete DPD deficiency have a significantly...

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Temozolomide

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intrinsic resistance conferred by MGMT deficiency (MGMTd) and 2) intrinsic or acquired resistance through MMR deficiency (MMRd). The MGMT enzyme is the first...

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Fluorouracil

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or complete DPD deficiency; an estimated 0.2% of individuals have complete DPD deficiency. Those with partial or complete DPD deficiency have a significantly...

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