Can elevated homocysteine levels be genetic?
Homocysteine levels in the blood may be elevated for many reasons as briefly described in the above section. More specifically, these 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 h