HCU Network America is a nonprofit organization dedicated to supporting patients with homocystinuria (HCU) and finding a cure. This October, the group is organizing HCU Awareness Month. With the goal of spreading awareness about this rare condition in the medical community as well as among the general population, this month will feature new activities every day that can contribute to the cause. Keep reading to see how you can get involved in supporting the campaign.
Homocystinuria is a rare genetic disorder in which a deficiency of an enzyme called cystathionine beta synthase leads to inhibited metabolism of an amino acid called methionine. Deficiencies affecting folate and vitamins B6 and B12 can also cause symptoms to appear. The disorder can lead to major signs and symptoms affecting multiple body systems. These symptoms include various eye problems (myopia, glaucoma, optical atrophy), abnormal chest shape (pectus excavatum or carinatum), vascular disease (thrombosis, atheroma), psychiatric problems, flushed cheeks, seizures, and intellectual disability. Patients often have a thin, tall build, high arched feet, knock knees, and long limbs. There is no known cure for homocystinuria, with many interventions being symptomatic and supportive. Around half of patients appear to benefit from high doses of vitamin B6, and continue this supplementation for life. Other options include a diet low in sulfur and protein, cysteine and folic acid supplementation, and trimethylglycine. To learn more about homocystinuria, click here.
Check out the image below to see the list of activities for HCU Awareness Month from HCU Network America:
For more information about getting involved in HCU Awareness Month, click here.
To learn more about HCU Network America’s activities, click here.