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Related Experiment Videos

Fumaric aciduria: clinical and imaging features.

J F Kerrigan1, K A Aleck, T J Tarby

  • 1Section of Child Neurology, Barrow Neurological Institute, St Joseph's Hospital and Medical Center, Phoenix, AZ 85013, USA.

Annals of Neurology
|May 11, 2000
PubMed
Summary
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Fumaric aciduria, a rare metabolic disorder, presents with severe infantile encephalopathy and unique brain malformations. Early recognition is crucial for managing this fumarate hydratase deficiency.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Fumaric aciduria is a rare inherited metabolic disorder resulting from fumarate hydratase enzyme deficiency.
  • This deficiency impacts the Krebs tricarboxylic acid cycle, a critical energy pathway.

Observation:

  • A consanguineous pedigree in the southwestern United States revealed 8 new patients with fumaric aciduria.
  • Clinical presentation included early infantile encephalopathy, profound developmental delay, hypotonia, and seizures.
  • Novel observations included structural brain malformations, dysmorphic facial features, and neonatal polycythemia.

Findings:

  • Magnetic resonance imaging (MRI) revealed diffuse polymicrogyria, reduced cerebral white matter, enlarged ventricles, and open opercula.
  • These findings highlight significant structural brain abnormalities associated with fumaric aciduria.

Related Experiment Videos

  • The study expands the known clinical and imaging spectrum of this rare disease.

    • Implications:

    • Fumaric aciduria should be considered in the differential diagnosis of inborn errors of metabolism presenting with cerebral malformations and dysmorphic features.
    • This research underscores the potential for inborn errors of energy metabolism to cause structural developmental abnormalities.
    • Increased awareness can improve diagnostic timelines and patient management for rare metabolic disorders.