Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated

Dakota J S J Peacock; Carlos R Ferreira; Gabriella Horvath; Georg F Hoffmann; Nenad Blau; Darius Ebrahimi-Fakhari

doi:10.1016/j.ymgme.2025.109084

Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated

Mol Genet Metab. 2025 May;145(1):109084. doi: 10.1016/j.ymgme.2025.109084. Epub 2025 Mar 18.

Authors

Dakota J S J Peacock¹, Carlos R Ferreira², Gabriella Horvath³, Georg F Hoffmann⁴, Nenad Blau⁵, Darius Ebrahimi-Fakhari⁶

Affiliations

¹ Division of Neurology, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada.
² Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA. Electronic address: carlos.ferreira@nih.gov.
³ Division of Biochemical Genetics, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada.
⁴ University Children's Hospital, University Clinic Heidelberg, Germany.
⁵ Division of Metabolism, University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch.
⁶ Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: darius.ebrahimi-fakhari@childrens.harvard.edu.

PMID: 40132382
DOI: 10.1016/j.ymgme.2025.109084

Abstract

Movement disorders are a common manifestation of inherited metabolic diseases (IMDs), categorized into hyperkinetic movement disorders, hypokinetic-rigid syndromes, ataxia, and spasticity. We reviewed and updated the list of known metabolic disorders associated with movement disorders, identifying a total of 559 IMDs. We outlined the more common and treatable causes, sorted by the dominant movement disorder phenomenology, and provided a practical clinical approach for suspected IMDs presenting with movement disorders. This work represents an updated catalog in a series of articles aimed at creating and maintaining a comprehensive list of clinical and metabolic differential diagnoses based on system involvement.

Keywords: Dystonia; Inborn errors of metabolism; Movement disorders; Myoclonus; Parkinsonism; ataxia.

Publication types

Review

MeSH terms

Diagnosis, Differential
Humans
Metabolic Diseases* / complications
Metabolic Diseases* / diagnosis
Metabolic Diseases* / genetics
Metabolic Diseases* / metabolism
Metabolism, Inborn Errors* / complications
Metabolism, Inborn Errors* / diagnosis
Metabolism, Inborn Errors* / genetics
Metabolism, Inborn Errors* / metabolism
Movement Disorders* / diagnosis
Movement Disorders* / etiology
Movement Disorders* / genetics
Movement Disorders* / metabolism