Homocystinuria Parent Testimonial - Rachel

Rachel describes her son's journey with homocystinuria.

Homocystinuria is a rare, autosomal recessive inherited metabolic disorder. The most common form of the disorder is known as classical homocystinuria and is caused by a missing enzyme known as Cystathionine Beta-Synthase (CBS). This enzyme defect causes a progressive accumulation of homocysteine to toxic levels in the blood. When untreated this disorder is life threatening and has detrimental effects on the brain, the eyes, the skeleton and the vascular system.

HCU Network America Patient & Expert Meeting, Accelerating Towards a Cure was held in Indianapolis, Indiana on October 19-20, 2019. The event brought together patients, clinicians and researchers from across the country to help increase awareness and improve education about homocystinuria.