Hyperhomocysteinemia

Hyperhomocysteinemia (synonyms: Homocysteinemia; homocysteinemia; homocystine metabolism disorder; homocysteinemia; hyperhomocysteinemia; ICD-10-GM E72.1: disorders of the metabolism of sulfur-containing amino acids) is associated with elevated concentrations of homocysteine (> 10 µmol/l) in the blood.

Homocysteine is formed during the breakdown of the essential amino acid methionine and is immediately converted further in healthy individuals, so that it is only present in the body in small quantities. The reduced enzyme activity of methylenetetrahydrofolate reductase (MTHFR)-deficiency) causes the conversion of the toxic amino acid homocysteine to methionine to be slowed down.

The metabolism of homocysteine, which plays an important role in the metabolism of sulfur-containing amino acids, provides an example of positive interactions of micronutrients (vital substances) with each other to maintain or optimize physiological functions and thus health.

The prevalence (disease frequency) for carriers of the homozygous MTHFR mutation (methylenetetrahydrofolate reductase (MTHFR) deficiency) is 12-15% in the normal population, and as high as 25% in patients with deep vein thrombosis. The proportion of heterozygous carriers of the MTHFR mutation may be as high as 47%.

Course and prognosis: Elevated homocysteine levels are considered to be an independent risk factor for thrombotic (affecting thrombosis (vessel occlusion)) and cardiovascular (affecting the heart and vascular system) diseases such as atherosclerosis (arteriosclerosis/arteriosclerosis). In patients with premature atherosclerosis, hyperhomocysteinemia has been considered an independent risk factor for the development of atherosclerosis in 10-42% of cases. Heterozygous carriers may have slightly elevated homocysteine levels without evidence of risk increase. Oral substitution of the micronutrients (vital substances) folic acid, vitamin B6, and B12 can normalize elevated homocysteine levels.