Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: One centers experience

Loren Pena, Brad Angle, Barbara Burton, Joel Charrow*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

22 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)342-347
Number of pages6
JournalGenetics in Medicine
Volume14
Issue number3
DOIs
StatePublished - Mar 2012

Keywords

  • inborn error of metabolism
  • isobutyryl-CoA dehydro-genase deficiency
  • newborn screening
  • short-chain acyl-CoA dehydrogenase deficiency

ASJC Scopus subject areas

  • Genetics(clinical)

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