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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.
Fatty-acid metabolism disorders result when both parents of the diagnosed subject are carriers of a defective gene. This is known as an autosomal recessive disorder. Two parts of a recessive gene are required to activate the disease. If only one part of the gene is present then the individual is only a carrier and shows no symptoms of the disease.
This polymorphism and mild hyperhomocysteinemia are associated with neural tube defects in offspring, increased risk for complications of pregnancy other complications of pregnancy, [23] arterial and venous thrombosis, and cardiovascular disease. [24] 677TT individuals are at an increased risk for acute lymphoblastic leukemia [25] and colon ...
Fatty liver disease (FLD), also known as hepatic steatosis and steatotic liver disease (SLD), is a condition where excess fat builds up in the liver. [1] Often there are no or few symptoms. [ 1 ] [ 2 ] Occasionally there may be tiredness or pain in the upper right side of the abdomen . [ 1 ]
Metabolic dysfunction–associated steatotic liver disease (MASLD), previously known as non-alcoholic fatty liver disease (NAFLD), [a] is a type of chronic liver disease. This condition is diagnosed when there is excessive fat build-up in the liver ( hepatic steatosis ), and at least one metabolic risk factor.
Elevated homocysteine is an independent risk factor for cardiovascular disease and inversely correlated to consumed vitamin B12/B6 and folate levels. [37] Homocysteine methylation to methionine is catalyzed by MTR, resulting in appropriate intracellular levels of methionine and tetrahydrofolate, alongside non-toxic homocysteine levels.