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  2. Homocystinuria - Wikipedia

    en.wikipedia.org/wiki/Homocystinuria

    Homocystinuria (HCU) [2] is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. [3] It is an inherited autosomal recessive trait , which means a child needs to inherit a copy of the defective gene from both parents to be affected.

  3. Hyperhomocysteinemia - Wikipedia

    en.wikipedia.org/wiki/Hyperhomocysteinemia

    Homocystinuria is the second most common cause of heritable ectopia lentis. Homocystinuria is an autosomal recessive metabolic disorder most often caused by a near absence of cystathionine b-synthetase. It is associated with intellectual disability, osteoporosis, chest deformities, and increased risk of thrombotic episodes.

  4. Methylenetetrahydrofolate reductase deficiency - Wikipedia

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

    The common MTHFR deficiencies are usually asymptomatic, although the 677T variant can cause a mildly increased risk of some diseases. [citation needed]For individuals homozygous in the 677T variant, there is a mildly elevated risk of thromboembolism (odds ratio 1.2), [4] and stroke (odds ratio 1.26). [5]

  5. Hypermethioninemia - Wikipedia

    en.wikipedia.org/wiki/Hypermethioninemia

    Hypermethioninemia can occur with other metabolic disorders, such as homocystinuria, tyrosinemia and galactosemia, which also involve the faulty breakdown of particular molecules. It can also result from liver disease or excessive dietary intake of methionine from consuming large amounts of protein or a methionine-enriched infant formula.

  6. Methylmalonic acidemias - Wikipedia

    en.wikipedia.org/wiki/Methylmalonic_acidemias

    Methylmalonic acidemia has an autosomal recessive pattern of inheritance.. Methylmalonic acidemias have an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene—one from each parent—must be inherited to be affected by the disorder.

  7. Inborn errors of metabolism - Wikipedia

    en.wikipedia.org/wiki/Inborn_errors_of_metabolism

    An abnormal result is often followed by a subsequent "definitive test" to confirm the suspected diagnosis. [citation needed] Gas chromatography–mass spectrometry (GCMS) machine. Common screening tests used in the last sixty years: [citation needed] Ferric chloride test (detects abnormal metabolites in urine)

  8. Maple syrup urine disease - Wikipedia

    en.wikipedia.org/wiki/Maple_syrup_urine_disease

    Maple syrup urine disease can be classified by its pattern of signs and symptoms or by its genetic cause. The most common and severe form of this disease is the classic type, which appears soon after birth, and as long as it remains untreated, gives rise to progressive and unremitting symptoms.

  9. Betaine—homocysteine S-methyltransferase - Wikipedia

    en.wikipedia.org/wiki/Betaine—homocysteine_S...

    In the field of enzymology, a betaine-homocysteine S-methyltransferase also known as betaine-homocysteine methyltransferase (BHMT) is a zinc metallo-enzyme that catalyzes the transfer of a methyl group from trimethylglycine and a hydrogen ion from homocysteine to produce dimethylglycine and methionine respectively: [2]