Abstract Details

Title Neuropsychiatric Presentations in Late-onset Inborn Errors of the Metabolism: A Systematic Review of the Literature

Topic Aging, Dementia, and Behavioral Neurology

Presentation(s) P2 - Poster Session 2 (11:45 AM-12:45 PM)

Poster/Presentation
Number 2-008

Objective To review the clinical features of adult-onset inborn errors of metabolism (IEMs) presenting with neuropsychiatric symptoms.

Background Awareness of IEMs presenting in adulthood is increasing. The potentially treatable nature of some of these conditions warrants consideration during the evaluation of patients. However, the rarity and plentitude of individual IEMs make their inclusion in clinical practice cumbersome.

Design/Methods We conducted a retrospective systematic review of the literature on treatable adult-onset IEMs up to September 2022. We obtained the clinical features of each case, including presentation course, neuropsychiatric and neurological symptoms.

Results We identified 192 cases in 14 IEMs. We divided the IEMs into four categories based on their pathophysiology: 1) energy deficits 2) intoxications 3) metal storage disorders, and 4) lysosomal storage disorders. Energy deficits presented with an acute (53.1% of cases) or episodic (34.4%) course. Impaired arousal (18.7%) and seizures (37.5%) were the most common neurological symptoms. Intoxications had an acute onset in 44.1% of cases. The most common neuropsychiatric symptom was psychosis (26.5%) and acute polyneuropathy was present in 20.6% of cases. Metal storage disorders had a chronic time course (76.3%) with memory impairment (26.5%) as the most common neuropsychiatric symptom. Lysosomal storage disorders progressed over a chronic time course (84.1%). Multidomain cognitive presentations were seen in 43.2% of patients, memory and language dysfunctions were the most common deficits. Spasticity and weakness were noted in 28.4% of cases.

Conclusions Neuropsychiatric symptoms are common in IEM. Our retrospective showed that the time course, neuropsychiatric symptoms at onset, and associated systemic symptoms are informative in establishing the IEM subtype underlying a neuropsychiatric presentation.

Authors/Disclosures
Mattia Rosso, MD (Medical University of South Carolina) PRESENTER	Dr. Rosso has nothing to disclose.
Federico J. Rodriguez-Porcel, MD, FAAN (Medical University of South Carolina)	Dr. Rodriguez-Porcel has received personal compensation in the range of $500-$4,999 for serving as a Consultant for BioVie. Dr. Rodriguez-Porcel has received personal compensation in the range of $500-$4,999 for serving as a Consultant for WCG. Dr. Rodriguez-Porcel has received research support from NIH. Dr. Rodriguez-Porcel has received publishing royalties from a publication relating to health care.

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