Homocystinuria (HCY) is an inborn error of metabolism, an inherited condition in which the body is unable to correctly process certain amino acids (parts of protein). These parts of protein then build up in the body and can cause serious health problems. There are different types of homocystinuria. The different types of homocystinuria have different genetic causes and may have different signs and symptoms such as eye problems, blood clots, stroke, seizures, bone problems, developmental delay and/or other potential signs and symptoms. Homocystinuria can be a life-threatening condition. However, early detection and management can benefit individuals with homocystinuria. Support groups are available to help connect families living with homocystinuria with others who have experience or expertise with these or similar conditions.
To learn more about Homocystinuria, visit Screening, Technology, and Research in Genetics (STAR-G): Homocystinuria and Baby's First Test: Homocystinuria. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.