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Novel mutation of early, perinatal-onset, myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency

Seigo Korematsu1, Yujiro Kosugi, Toshihide Kumamoto

  • 1Department of Pediatrics and Child Neurology, Faculty of Medicine, Oita University, Oita, Japan. kseigo@med.oita-u.ac.jp

Pediatric Neurology
|July 11, 2009
PubMed

Insights

This study reports a novel mutation causing myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency in a neonate. Early diagnosis and management, including diet and avoiding fasting, led to normal development.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare inherited metabolic disorder affecting fatty acid oxidation.
  • Myopathic-type VLCAD deficiency typically presents with muscle weakness and exercise intolerance.

Observation:

  • A male neonate experienced fetal distress, neonatal asphyxia, and transient hyper-creatine kinase-emia, followed by recurrent rhabdomyolysis.
  • At age 6, the patient showed decreased serum carnitine levels and muscle abnormalities, with elevated 5-tetradecenoate in blood and serum.
  • Skin fibroblast analysis revealed decreased acyl-CoA dehydrogenase activity and a compound heterozygote mutation in the ACADM gene (exons 9 and 10).

Findings:

  • A novel compound heterozygote mutation (c.790A>G and c.997_998insT) in the ACADM gene was identified, causing myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency.
  • This mutation is associated with a perinatal onset, which has not been previously reported for this subtype.
  • The patient's clinical presentation and biochemical findings were consistent with VLCAD deficiency.

Implications:

  • This case highlights a novel mutation responsible for a severe form of VLCAD deficiency with perinatal onset.
  • Effective management, including dietary modifications (high-carbohydrate, low-fat diet, avoiding fasting) and prompt treatment of rhabdomyolysis, can lead to normal physical and mental development.
  • Early diagnosis and intervention are crucial for improving outcomes in patients with VLCAD deficiency.

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