Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience

Genet Med. 2012 Mar;14(3):342-7. doi: 10.1038/gim.2011.9. Epub 2012 Jan 5.

Abstract

Purpose: To evaluate the growth, development, and medical histories of children with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening.

Methods: Chart review of patients diagnosed with short-chain acyl-CoA dehydrogenase or isobutyryl-CoA dehydrogenase deficiency at our center.

Results: There were 16 children with short-chain acyl-CoA dehydrogenase deficiency, including 10 with two pathogenic mutations, and 8 with isobutyryl-CoA dehydrogenase deficiency. All but one patient has had normal growth and development, and that patient also had the 22q deletion syndrome.

Conclusion: Our data and previous reports suggest that the majority of individuals with short-chain acyl-CoA dehydrogenase or isobutyryl-CoA dehydrogenase deficiencies have normal growth and development.

MeSH terms

  • Acyl-CoA Dehydrogenase / deficiency
  • Acyl-CoA Dehydrogenase / genetics
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Child
  • Child, Preschool
  • Follow-Up Studies
  • Humans
  • Infant
  • Infant, Newborn
  • Lipid Metabolism, Inborn Errors / diagnosis*
  • Lipid Metabolism, Inborn Errors / genetics
  • Mutation
  • Neonatal Screening*

Substances

  • Acyl-CoA Dehydrogenase

Supplementary concepts

  • Isobutyryl-CoA dehydrogenase deficiency
  • Short chain Acyl CoA dehydrogenase deficiency