Impact of Homocystinuria on the Brain and Nervous System
Biochemical/Metabolic and Therapeutics
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Secondary Categories:
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.
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.