Homocystinuria Patient Testimonial - Anagnostopoulos скачать в хорошем качестве

Homocystinuria Patient Testimonial - Anagnostopoulos

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. The 1st International Patient & Expert Meet was held in Prague on Rare Disease Day, 29th February 2016. The event brought together patients, clinicians and researchers from across the world to help increase awareness and improve education about homocystinuria, methylation defects and folate defects. To find out more, visit The HCU Network Australia http://hcunetworkaustralia.org.au/.