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Some mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency. [6] [7] [8] Complex I deficiency with recessive spastic paraparesis has also been linked to MTHFR variants. In addition, the aberrant promoter hypermethylation of this gene is associated with male infertility and recurrent spontaneous abortion. [9] [10]
MTHFR is the rate-limiting enzyme in the methyl cycle, which includes the conversion of homocysteine into methionine. Defects in variants of MTHFR can therefore lead to hyperhomocysteinemia. [9] There are two common variants of MTHFR deficiency. In the more significant of the two, the individual is homozygous for the 677T polymorphism.
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
Mutations in the MTR gene have been identified as the underlying cause of methylcobalamin deficiency complementation group G, or methylcobalamin deficiency cblG-type. [5] Deficiency or deregulation of the enzyme due to deficient methionine synthase reductase can directly result in elevated levels of homocysteine ( hyperhomocysteinemia ), which ...
MTHFR = methelynetetrahydrofolate reductase; MTHF = Methyltetrahydrofolate. Without the effective reductase action, your body can't make enough of the folate form. You also won't have an efficient methylization cycle to clean up all kinds of junk in your body. Work with your medical doctor to test for MTHFR defects and appropriate supplementation.
Tetrahydrobiopterin deficiency (THBD, BH 4 D) is a rare metabolic disorder that increases the blood levels of phenylalanine.Phenylalanine is an amino acid obtained normally through the diet, but can be harmful if excess levels build up, causing intellectual disability and other serious health problems.
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(MTRR):r.1462_1557del96 – Associated with splicing of exon 11 due to a 7 base pair deletion. A large deletion of this mutant allele results in the absence of a c-terminus in the FAD binding domain. Pathogenicity associated with CblE type of homocystinuria. [21] (MTRR):c.1953-6_1953-2del5 – Novel mutation associated with CblE type of ...