Homocystinuria Parent Testimony - Sarah скачать в хорошем качестве

Homocystinuria Parent Testimony - Sarah

Sarah describes her two children's journey with homocystinuria. Homocystinuria is a rare, autosomal recessively 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, Taking the Lead for HCU was held in Westford, Massachusetts on April 21-22, 2018. The event brought together patients, clinicians and researchers from across the country to help increase awareness and improve education about homocystinuria.