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5,10-methenyltetrahydrofolate Synthetase Deficiency
5,10-Methenyltetrahydrofolate synthetase deficiency (MTHFS deficiency) is a rare neurodevelopmental disorder caused by mutations affecting the MTHFS gene, which encodes the enzyme 5,10-Methenyltetrahydrofolate synthetase. The disease starts at birth or in early infancy and presents with microcephaly, short stature, and developmental delay. Patients develop seizures that may be hard to control. Brain imaging shows delayed myelination and hypomyelination. Mutations of the MTHFS gene disrupt folate metabolism, which is very important for the proper development of the nervous system and myelination of nerve fibers. Patients present with cerebral folate deficiency, a condition in which there are reduced levels of 5-MTHF in the cerebrospinal fluid. However, contrary to other causes of cerebral folate deficiency, the use of folinic acid for treatment may be contraindicated due to excess levels of folinic acid in the organism of patients. The first case report of MTHFS deficiency was p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Axial T1-weighted MRI Of The Brain At 10 Months Old With MTHFS Deficiency
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Axial may refer to: * one of the anatomical directions describing relationships in an animal body * In geometry: :* a geometric term of location :* an axis of rotation * In chemistry, referring to an axial bond * a type of modal frame, in music * axial-flow, a type of fan * the Axial Age in China, India, etc. * Axial Seamount and submarine volcano off Oregon, USA * Axial, Colorado, a ghost town See also * Axiality (other) *Axis (other) An axis (plural ''axes'') is an imaginary line around which an object rotates or is symmetrical. Axis may also refer to: Mathematics * Axis of rotation: see rotation around a fixed axis *Axis (mathematics), a designator for a Cartesian-coordinate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MTHFS
In enzymology, a 5-formyltetrahydrofolate cyclo-ligase () is an enzyme that catalyzes the chemical reaction :ATP + 5-formyltetrahydrofolate (folinic acid) \rightleftharpoons ADP + phosphate + 5,10-methenyltetrahydrofolate Thus, the two substrates of this enzyme are ATP and 5-formyltetrahydrofolate, whereas its 3 products are ADP, phosphate, and 5,10-methenyltetrahydrofolate. This enzyme belongs to the family of ligases, specifically the cyclo-ligases, which form carbon-nitrogen bonds. The systematic name of this enzyme class is 5-formyltetrahydrofolate cyclo-ligase (ADP-forming). Other names in common use include 5,10-methenyltetrahydrofolate synthetase (MTHFS), formyltetrahydrofolic cyclodehydrase, and 5-formyltetrahydrofolate cyclodehydrase. This enzyme participates in one carbon pool by folate. Structural studies As of late 2007, 5 structures have been solved for this class of enzymes, with PDB accession codes , , , , and . Role in pathology Mutations of the MTH ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cerebral Folate Deficiency
Cerebral folate deficiency is a condition in which concentrations of 5-methyltetrahydrofolate are low in the brain as measured in the cerebral spinal fluid despite being normal in the blood. Symptoms typically appear at about 5 to 24 months of age. Without treatment there may be poor muscle tone, trouble with coordination, trouble talking, and seizures. One cause of cerebral folate deficiency is a mutation in a gene responsible for folate transport, specifically FOLR1. This is inherited in an autosomal recessive manner. Other causes appear to be Kearns–Sayre syndrome and autoantibodies to the folate receptor. For people with the FOLR1 mutation, even when the systemic deficiency is corrected by folate, the cerebral deficiency remains and must be treated with folinic acid. Success depends on early initiation of treatment and treatment for a long period of time. Fewer than 20 people with the FOLR1 defect have been described in the medical literature. Signs and symptoms Childr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Levomefolic Acid
Levomefolic acid (INN, also known as L-5-MTHF, L-methylfolate and L-5-methyltetrahydrofolate and (6''S'')-5-methyltetrahydrofolate, and (6''S'')-5-MTHF) is the primary biologically active form of folate used at the cellular level for DNA reproduction, the cysteine cycle and the regulation of homocysteine. It is also the form found in circulation and transported across membranes into tissues and across the blood–brain barrier. In the cell, L-methylfolate is used in the methylation of homocysteine to form methionine and tetrahydrofolate (THF). THF is the immediate acceptor of one carbon unit for the synthesis of thymidine-DNA, purines (RNA and DNA) and methionine. The un-methylated form, folic acid (vitamin B9), is a synthetic form of folate, and must undergo enzymatic reduction by dihydrofolate reductase (DHFR) to become biologically active. It is synthesized in the absorptive cells of the small intestine from polyglutamylated dietary folate. It is a methylated derivative of te ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Folinic Acid
Folinic acid, also known as leucovorin, is a medication used to decrease the toxic effects of methotrexate and pyrimethamine. It is also used in combination with 5-fluorouracil to treat colorectal cancer and pancreatic cancer, may be used to treat folate deficiency that results in anemia, and methanol poisoning. It is taken by mouth, injection into a muscle, or injection into a vein. Side effects may include trouble sleeping, allergic reactions, or fever. Use in pregnancy or breastfeeding is generally regarded as safe. When used for anemia it is recommended that pernicious anemia as a cause be ruled out first. Folinic 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. It is on the World Health Organization's List of Essential Medicines. Medical use Folinic acid is given following methotrexate as part of a total chemotherapeutic plan, where it may protect against bone marro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cerebral Folate Deficiency
Cerebral folate deficiency is a condition in which concentrations of 5-methyltetrahydrofolate are low in the brain as measured in the cerebral spinal fluid despite being normal in the blood. Symptoms typically appear at about 5 to 24 months of age. Without treatment there may be poor muscle tone, trouble with coordination, trouble talking, and seizures. One cause of cerebral folate deficiency is a mutation in a gene responsible for folate transport, specifically FOLR1. This is inherited in an autosomal recessive manner. Other causes appear to be Kearns–Sayre syndrome and autoantibodies to the folate receptor. For people with the FOLR1 mutation, even when the systemic deficiency is corrected by folate, the cerebral deficiency remains and must be treated with folinic acid. Success depends on early initiation of treatment and treatment for a long period of time. Fewer than 20 people with the FOLR1 defect have been described in the medical literature. Signs and symptoms Childr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
