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  2. Methylenetetrahydrofolate reductase deficiency - Wikipedia

    en.wikipedia.org/wiki/Methylenetetrahydrofolate...

    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.

  3. Methylenetetrahydrofolate reductase - Wikipedia

    en.wikipedia.org/wiki/Methylenetetrahydrofolate...

    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]

  4. 5,10-methenyltetrahydrofolate synthetase deficiency - Wikipedia

    en.wikipedia.org/wiki/5,10-methenyltetrahydrofo...

    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. [2] The disease starts at birth or in early infancy and presents with microcephaly, short stature, and developmental delay.

  5. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.

  6. Methionine synthase - Wikipedia

    en.wikipedia.org/wiki/Methionine_synthase

    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 ...

  7. Epigenetics of autism - Wikipedia

    en.wikipedia.org/wiki/Epigenetics_of_autism

    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]

  8. 5 Hidden Meditation Retreats Experts Swear Will Melt Your ...

    www.aol.com/5-hidden-meditation-retreats-experts...

    Set on the beautiful land of Hana, the center is world-renowned for its Vipassana meditation program. “You can’t pick a more tranquil, beautiful place for a meditation retreat than Hawaii.

  9. Finnish heritage disease - Wikipedia

    en.wikipedia.org/wiki/Finnish_heritage_disease

    In Finland about one in five persons carries a gene defect associated with at least one Finnish heritage disease, and about one in 500 children born is affected. [4] Most of the gene defects are autosomal recessives , so that if both the mother and father carry the same defect, the chance that their child will have the associated disease is 1 in 4.