Toxic levels of homocysteine can lead to life-threatening thrombotic events such as stroke and heart attacks. Other symptoms of the disease include nearsightedness, dislocation of the lens of the eye, and developmental delay.
Current treatment options include significant dietary restrictions and use of vitamin B6 and betaine. For many individuals with classical HCU, homocysteine levels remain elevated despite the availability of these treatments.
The disorder is inherited in an autosomal recessive genetic manner, meaning that a child is affected when each parent passes on one copy of the mutated gene.