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Hyperhomocysteinemia Causes

Hyperhomocysteinemia is caused by several factors, including folate deficiency, vitamin B12 deficiency, vitamin B6 deficiency, cystathionine beta-synthase deficiency, and methylenetetrahydrofolate reductase deficiency.

Hyperhomocysteinemia Definition

Hyperhomocysteinemia is a condition wherein there's an excessive level of homocysteine in the blood. It's often linked with cobalamin or folate deficiency, and genetic defects. Homocysteine is a molecule in the body that's naturally occurring, and is needed in many reactions that happen within body cells. These reactions result to methionine and cysteine formation; if passageways to methionine and cysteine are blocked, then the levels of homocysteine rise.

Hyperhomocysteinemia Diagnosis

Diagnosis is based on history, physical examination, and blood tests. Further diagnostic tests may be done to confirm diagnosis.

Hyperhomocysteinemia Symptoms and Signs

Affected individuals are usually asymptomatic till the start of a premature arterial disorder later life. Common symptoms include thrombosis, abnormalities of blood vessels, bone loss, and atherosclerosis. Less common symptoms include mental retardation in severe cases.

Hyperhomocysteinemia Treatment

Unlike other types of thrombophilic disorders, Hyperhomocysteinemia may be directly treated with the use of vitamin supplementation. Folate is primarily the vitamin used in lowering the levels of homocysteine. However, this supplementation is not sufficient to normalize the levels of homocysteine in affected individuals, thus several other medications can be administered.

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