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Abstract Details

Prevalence of Neurological Symptoms in Pediatric and Adult Patients with Homocystinuria
Child Neurology and Developmental Neurology
P4 - Poster Session 4 (8:00 AM-9:00 AM)
8-004
To describe the neurologic symptoms in individuals with homocystinuria across the lifespan. 
Homocystinuria (HCU) refers to a group of inherited metabolic disorders characterized by the abnormal accumulation of homocysteine. Classic HCU is caused by deficient cystathionine β-synthase while less common HCU types are due to disruptions in the methylation pathway. We present the spectrum and prevalence of neuropsychiatric symptoms in both pediatric and adult HCU populations. 
Standardized evaluations were completed by individuals with HCU or their caregivers through a federated data collection program, RareX. The questionnaires included assessments of symptoms, therapies, and quality of life. Participants were recruited through the patient advocacy group, HCU Network America.   

Forty-two individuals with Classic HCU (18 pediatric, 24 adult) and 16 individuals with other types of HCU (11 pediatric, 5 adult) completed the initial questionnaire.  

21 participants with classic HCU (6 pediatric, 15 adult) and 13 with other causes of HCU (8 pediatric, 5 adult) reported symptoms related to the brain and nervous system. 12 participants with classic HCU (5 pediatric, 7 adults) and 12 with other causes of HCU (8 pediatric, 4 adult) reported symptoms related to development. 21 participants with classic HCU (5 pediatric, 16 adult) and only 4 with other causes of HCU (3 pediatric, 1 adult) reported having behavior and psychiatric symptoms. 

9 participants completed a more detailed survey where 6 classical HCU individuals (1 pediatric, 5 adult) and 1 other HCU adult reported a thromboembolic event.  
While neuropsychiatric symptoms have been previously reported in HCU, half of our participants with classic HCU experience these symptoms, with an even greater proportion in the non-classic HCU participants.  This data suggests neuropsychiatric symptoms may be under-recognized in the HCU population. Better understanding of these symptoms will increase healthcare provider recognition of these issues and bring earlier, more effective intervention. 
Authors/Disclosures
Nicolo Betoni, MD
PRESENTER 		Mr. Betoni has nothing to disclose.
Brittany Parke, Nonprofit Mrs. Parke has received personal compensation for serving as an employee of HCU Network America.
Zohreh Talebizadeh, PhD Dr. Talebizadeh has nothing to disclose.
Andrew J. Lee, MD Dr. Lee has nothing to disclose.
Marie Varnet, MD (UTSW) Dr. Varnet has nothing to disclose.
Changrui Xiao, MD (UC Irvine) Dr. Xiao has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for WIley. The institution of Dr. Xiao has received research support from NIH.