Skip to main content

Conference Program

Subpage Hero

Loading

Impact of Homocystinuria on the Brain and Nervous System 

Biochemical/Metabolic and Therapeutics
  • Primary Categories:
    • Metabolic Genetics
  • Secondary Categories:
    • Metabolic Genetics
Introduction:
HCU Network America, in collaboration with RARE-X, is conducting a survey to assess symptoms and findings reported by patients with homocystinuria and their caregivers. The study includes patients with Cystathionine beta-synthase (CBS) deficiency, remethylation defects, and cobalamin processing disorders.  One significant area of concern is the impact of these conditions on the neurological system.

 

Methods:
Patients or caregivers were invited to participate in an ongoing study, completing annual, standardized questionnaires provided by RARE-X. These questionnaires cover aspects of symptoms, therapies, and quality of life for affected individuals. 

Results:
Of the 50 individuals with CBS deficiency who completed the screening questionnaire, 39 completed a more detailed survey, with 58% reporting neurological symptoms. Among 21 individuals with other causes of homocystinuria, 15 (71%) reported an impact on the brain or nervous system. Cognitive impairment and coordination issues were the most commonly reported symptoms, affecting 26% of those with CBS deficiency and 31% of those with other types of homocystinuria. Additionally, 23% of those with CBS deficiency and 37.5% with other forms of homocystinuria reported coordination issues. Behavioral concerns, including anxiety, depression, mood issues, and impulsivity, were noted in 48% of individuals with CBS deficiency and 24% of those with other forms of homocystinuria.

 

Conclusion:
Individuals with homocystinuria frequently experience cognitive and behavioral challenges, particularly related to anxiety and depression.  These issues should be carefully monitored and addressed in clinical management.

 

Agenda

Sponsors