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Updated: Jul 14, 2025

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Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism

Juan Darío Ortigoza-Escobar1,2,3

  • 1Department of Paediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.

Tremor and Other Hyperkinetic Movements (New York, N.Y.)
|October 9, 2023
PubMed

Insights

Movement disorders like chorea are rare in inborn errors of metabolism. Early diagnosis using red flags, biochemical, and neuroimaging tests is crucial for better patient outcomes.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Movement disorders, especially chorea, are infrequently observed in inborn errors of metabolism (IEMs).
  • Existing literature on movement disorders in IEMs is limited, often based on case studies, necessitating further research and awareness.
  • Identifying these disorders is critical for improving patient prognosis and clinical management.

Approach:

  • A systematic review of the MEDLINE database and GeneReviews was performed.
  • The search focused on IEMs associated with chorea, athetosis, or ballismus, adhering to PRISMA guidelines.
  • 76 studies from 1964-2022, involving 173 patients, were analyzed.

Key Points:

  • Chorea was present in 90.1% of patients; athetosis in 5.7%.
  • Trace elements and metals were the most common associated IEMs. Cognitive/developmental issues, seizures, and dysarthria were frequent neurological findings.
  • Neuroimaging and biochemical tests were vital for diagnosis, with abnormal findings in 34.1% and 47.9% of patients, respectively.

Conclusions:

  • Movement disorders in IEMs are complex, requiring a systematic diagnostic approach.
  • Early detection and individualized treatment necessitate collaboration among neurologists, geneticists, and metabolic specialists.
  • Advanced genetic testing and therapeutic strategies are essential for improving patient outcomes.
Abstract

Keywords:
Choreaathetosisballismusinborn errors of metabolismneuroimaging

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