Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening

Sharon Anderson, Christina Botti, Bo Li, James H. Millonig, Elaine Lyon, Alison Millson, Suzanne S.M. Karabin, Susan Sklower Brooks

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

In the follow-up of New Jersey newborn screens suggestive of medium chain acyl-CoA dehydrogenase deficiency (MCADD) during a 30-month period, we identified five patients of Hispanic American ethnicity. With information provided by the New Jersey Department of Health and Human Services Newborn Screening program we calculated an overall cumulative incidence of approximately 7.20/100,000 for MCADD; 7.58/100,000 among Hispanic Americans and 7.08/100,000 among non-Hispanic Americans. Among the five Hispanic American infants who screened positive, a common variant (c.443G>A [p.R148K]) was identified which accounted for 30% of the alleles; c.799G>A (p.G267R) and c.985A>G (p.K329E) each accounted for an additional 20%; and a novel variant c.302G>A (p.G101E) was identified in one patient. Although treated prospectively during interim illnesses to prevent unwanted sequelae; till date, none of the patients carrying the c.443G>A variant have been symptomatic.

Original languageEnglish (US)
Pages (from-to)2100-2105
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number9
DOIs
StatePublished - Sep 2012

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Keywords

  • Medium chain acyl-CoA dehydrogenase deficiency (MCADD)
  • Newborn screening

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