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Published on: November 21, 2013
Adult-onset chorea and dementia with propionic acidemia
1Department of Neurology, Medical College of Georgia, Augusta.
Neurology
|October 1, 1989
Summary
Propionic acidemia, a metabolic disorder, can manifest in adulthood with movement and cognitive symptoms. Early metabolic investigations are crucial for diagnosing rare adult-onset cases presenting with movement disorders.
Area of Science:
- Biochemistry
- Neurology
- Metabolic Disorders
Background:
- Propionic acidemia is typically diagnosed in newborns presenting with severe metabolic acidosis and lethargy.
- Propionyl CoA carboxylase (PCC) deficiency is an inborn error of metabolism.
- Movement disorders like chorea and dementia are common in various neurological conditions.
Observation:
- A 31-year-old male presented with adult-onset chorea and dementia.
- The patient was diagnosed with propionic acidemia, a condition usually seen in infancy.
- The cause was identified as propionyl CoA carboxylase deficiency.
Findings:
- Propionic acidemia can present atypically in adulthood with neurological symptoms.
- Adult-onset chorea and dementia can be a manifestation of propionic acidemia.
- The case highlights a rare presentation of a known metabolic disorder.
Implications:
- Metabolic investigations should be considered in the differential diagnosis of adult-onset movement disorders of unknown etiology.
- This case broadens the understanding of the clinical spectrum of propionic acidemia.
- Early diagnosis through metabolic testing can potentially guide management and improve outcomes for patients with unexplained neurological symptoms.
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