Classical homocystinuria (HCU) HCU—2027 and beyond!

https://rarerevolutionmagazine.com/digitalspotlight/hcu-2027-and-beyond/ Written by Karen Roberts and Nicola Miller, RARE Revolution Interview with Tara Morrison, director of HCU Network Australia, Danaé Bartke, executive director HCU Network America Sarah Jones, community lead, Metabolic Support Classical HCU causes a deficiency of cystathionine beta-synthase (CBS). Without enough CBS, the amino acids homocysteine and methionine build up in the blood. HCU can cause complications such as stroke, pulmonary embolism and deep vein thrombosis, ophthalmologic and skeletal complications, as well as developmental delay. Treatment may consist of vitamin supplementation, dietary restrictions, medication and an amino acid formula. Newborn screening for the condition is available, albeit inconsistent globally, and cases of missed diagnoses have been reported.