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3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family

F Tuba Eminoglu1, Aysima A Ozcelik, Ilyas Okur

  • 1Department of Pediatric Metabolism and Nutrition, Gazi University Hospital, 10. floor, Beşevler, Ankara, Turkey. tubaeminoglu@yahoo.com.tr

Journal of Child Neurology
|April 3, 2009
PubMed

Insights

3-methylcrotonyl-CoA carboxylase deficiency presents with varied symptoms, including seizures and developmental delays. This study details a family with this rare metabolic disorder, highlighting its broad phenotypic variability.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • 3-methylcrotonyl-CoA carboxylase deficiency is a rare inherited metabolic disorder.
  • It affects the leucine degradation pathway.
  • Clinical manifestations can vary widely.

Observation:

  • A family presented with diverse clinical features attributed to 3-methylcrotonyl-CoA carboxylase deficiency.
  • Affected individuals included a boy with atonic seizures, a brother with delayed language development, and an uncle with epilepsy.
  • Biochemical analyses revealed elevated urinary organic acids and acylcarnitines, with reduced enzyme activity in fibroblasts.

Findings:

  • A novel homozygous deletion in the MCCA gene was identified in the affected family members.
  • The deletion (c.873+4524_6787de12264) resulted in significantly reduced MCC enzyme activity.
  • Adult-onset afebrile seizures, a previously unreported presentation, were observed.

Implications:

  • This study expands the known clinical spectrum of 3-methylcrotonyl-CoA carboxylase deficiency.
  • It underscores the importance of considering this disorder in individuals with unexplained neurological symptoms.
  • Genetic analysis is crucial for diagnosing this condition and understanding its variability.

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