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Methylenetetrahydrofolate reductase deficiency is the most common genetic cause of elevated serum levels of homocysteine (hyperhomocysteinemia). It is caused by genetic defects in MTHFR, which is an important enzyme in the methyl cycle. [1] Common variants of MTHFR deficiency are asymptomatic and have only minor effects on disease risk. [2]
Methylenetetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. [5] Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate , a cosubstrate for homocysteine remethylation to methionine .
Symptoms typically appear at about 5 to 24 months of age. [3] [2] Without treatment there may be poor muscle tone, trouble with coordination, trouble talking, and seizures. [3] One cause of cerebral folate deficiency is a mutation in a gene responsible for folate transport, specifically FOLR1. [2] [4] This is inherited in an autosomal recessive ...
C677T or rs1801133 is a genetic variation—a single nucleotide polymorphism (SNP)—in the MTHFR gene. Among Americans the frequency of T-homozygosity ranges from 1% or less among people of sub-Saharan African descent to 20% or more among Italians and Hispanics. [1] It has been related to schizophrenia [2] Alzheimer's disease [3] depression [4 ...
A meta-analysis demonstrated that polymorphism of the MTHFR C677T genotype is correlated with an ASD diagnosis in children from countries lacking food fortification. [39] While MTHFR is a proposed genetic factor for ASD, there is limited clinical evidence from testing for MTHFR gene polymorphisms in the diagnostic setting. [40]
As for whether depression symptoms specifically lessen after menopause, the Australasian Psychiatry systematic review found mixed results: Some quoted studies found an elevated risk for depression ...
At the Intersection of Health, Health Care and Policy (published online May 4, 2011; 10.1377/hlthaff.2011.0077) Health Affairs, 30, no.5 (2011):852-862 Performance Air Pollution Around Schools Is Linked To Poorer Student Health And Academic Paul Mohai, Byoung-Suk Kweon, Sangyun Lee and Kerry Ard Cite this article as: €
Hageman factor deficiency; Hagemoser–Weinstein–Bresnick syndrome; Hailey–Hailey disease; Hair defect with photosensitivity and mental retardation; Hairy cell leukemia; Hairy ears, y-linked; Hairy ears; Hairy nose tip; Hairy palms and soles; Hairy tongue; Hajdu–Cheney syndrome; Halal–Setton–Wang syndrome; Halal syndrome; Hall–Riggs ...