Hcu Network Australia

HCU Network Australia is a Health Promotion Charity with the vision “to be a driving force in the journey to a cure, improving quality of life along the way”. Our aim is to achieve meaningful progress and best health outcomes for the HCU community. Our priorities are to: Support HCU Patients, their families and their caregivers; Raise awareness of HCU and the importance of early detection, diagnosis and treatment; and Support and encourage research into improved diagnostic methods, increased treatment options and ultimately a cure. Homocystinuria (HCU) is a devastating rare genetic disease that when untreated causes most notably intellectual disability and early mortality. HCU is progressive and affected individuals suffer multi-systemic disorder of the central nervous system (CNS), ocular, skeletal, and cardiovascular system. Symptoms are highly variable but include intellectual disability, developmental delay and learning difficulties, psychiatric disturbances, behavioural problems, dislocation of the lens of the eye resulting in blindness if untreated, seizures, osteoporosis and skeletal abnormalities, premature heart attack and stroke. No cure has been discovered for HCU. Those affected require life-long medical and dietary management.