The challenges of having homocystinuria
The manifestations of homocystinuria continue to progress with the classic clinical symptoms reaching varying degrees of disability and impact on the quality of life of affected individuals. Regardless of the individual’s age of onset, the loss of biochemical control at any age is associated with the development of serious complications that can be life-threatening. Although a restricted diet decreases homocysteine levels in fully compliant patients to varying degrees, most patients require additional therapies to achieve their target homocysteine levels, which are still far above normal levels. Compliance with diet is often poor because of the complexities of the diet and its severe restrictions.