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Homocysteine
(Elevated Homocysteine, Homocystinuria, Hyperhomocysteinemia)

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What is homocysteine?

Homocysteine is an amino acid that is produced by the body by chemically altering adenosine. Amino acids are naturally made products, which are the building blocks of all the proteins in the body.

Can elevated homocysteine levels be genetic?

In 1969, Dr. Kilmer S. McCully reported that children born with a genetic disorder called homocystinuria, which causes the homocysteine levels to be very high, sometimes died at a very young age with advanced atherosclerosis in their arteries. Homocysteine levels in the blood may be elevated for many reasons. More specifically, these reasons can be divided into severe genetic causes and other milder causes.

In the genetic condition called homocystinuria, there is a deficiency or lack of an important mediator molecule (enzymes) in the complicated homocysteine breakdown pathway. This leads to severely elevated levels of homocysteine. In this rare and serious condition, there is a constellation of symptoms that include developmental delay, osteoporosis (thin bones), visual abnormalities, formation of blood clots, and advanced atherosclerosis (narrowing and hardening of blood vessels). This condition is mainly recognized in childhood.

Milder genetic variations are more common causes of elevated homocysteine levels (hyperhomocysteinemia). In these conditions, the mediator molecules malfunction and are less efficient because of minor abnormality in their structure. They also lead to elevation of homocysteine levels, although much milder than in homocystinuria, by slowing down the breakdown of homocysteine.

Medically Reviewed by a Doctor on 8/5/2014

Patient Comments

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Homocysteine - Elevated Levels Question: Do you or someone you know have homocystinuria and elevated homocysteine levels? Please describe your experience.
Homocysteine - Lowering Levels Question: What supplements or other lifestyle changes have you found effective in lowering your elevated homocysteine levels?
Homocysteine - Testing Question: Please describe the decision to test you or someone you know for blood homocysteine levels.
Source: MedicineNet.com
http://www.medicinenet.com/homocysteine/article.htm

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