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[A two-year-old infant with a myopathic form of very-long-chain Acyl-CoA dehydrogenase deficiency]

Yasushi Ito1, Kazutoshi Nakano, Keiko Shishikura

  • 1Department of Pediatrics, Tokyo Women's Medical University, School of Medicine, Tokyo.

No to Hattatsu = Brain and Development
|November 25, 2003
PubMed

Insights

Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency can present in infancy. This case highlights an early-onset myopathic form, challenging current phenotypic classifications of VLCAD deficiency.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder affecting fatty acid oxidation.
  • VLCAD deficiency is typically classified into severe childhood, milder childhood, and adult forms.

Observation:

  • A two-year-old girl presented with recurrent hyper-creatine kinasemia, cervical muscle cramps, and hypertonicity.
  • Symptoms were exacerbated by exercise, and dicarboxylic aciduria was noted during fasting, suggesting a fatty acid oxidation defect.

Findings:

  • Diagnostic tests including dried blood spot analysis of free fatty acids and acyl carnitines, and fibroblast acyl-CoA dehydrogenase activity assays confirmed VLCAD deficiency.
  • The patient's presentation suggests an early-onset myopathic phenotype, distinct from previously described forms.

Implications:

  • This case suggests a re-evaluation of VLCAD deficiency phenotypes, proposing 'systemic' for childhood forms and 'myopathic' for adult and this infant case.
  • Early diagnosis of the myopathic form within the first year of life is crucial and has not been previously reported.

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