Characterization of Adult Patients With Neurometabolic Disorders: A Cross-Sectional Study at a Tertiary Neurology...

Adult patients with inherited metabolic diseases are often overlooked. Limited data on this population hinder adequate planning of their clinical and social care. In this retrospective, observational, cross-sectional service evaluation study, we reviewed the electronic medical records of adult patients with inherited neurometabolic diseases (NIMD) managed at Skåne University Hospital between 2020 and 2024. Skåne University Hospital, located in Region Skåne in Southern Sweden, is one of three specialized tertiary centers for inherited metabolic diseases in Sweden. The aim of this study was to characterize these patients demographically and clinically and to describe their treatment profiles, functional status, and social support. We identified 59 patients. Most patients had disorders of intermediary energy metabolism (21/59; 35.6%) or lipid metabolism (14/59; 23.7%), including 10 patients (16.9%) with adrenoleukodystrophy. Disease-specific treatments were provided to 65.4% of patients, and 83.6% were under continuous follow-up. Sixteen patients (27.1%) were fully independent, lived in their own homes, did not require societal support nor mobility aid, and worked/studied full time/retired due to old age. More than half of the patients (50.8%) received no disability or social support. In conclusion, adult patients with NIMD represent a heterogeneous group with variable clinical and social needs. Despite the rarity of individual NIMDs, disease-specific treatments were commonly used in our center. Further studies, particularly long-term follow-up studies, are required to better understand NIMD clinical trajectories and to optimize both medical management and social support for adults with NIMD.