title: Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening.
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.
authors: Division of Medical Genetics, Department of Pediatrics, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, New Jersey 08901, USA.
authors: Sharon
authors: S
authors: Anderson
authors: Christina
authors: C
authors: Botti
authors: Bo
authors: B
authors: Li
authors: James H
authors: JH
authors: Millonig
authors: Elaine
authors: E
authors: Lyon
authors: Alison
authors: A
authors: Millson
authors: Suzanne S M
authors: SS
authors: Karabin
authors: Susan Sklower
authors: SS
authors: Brooks
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency / Q000235:genetics; D006630:Hispanic or Latino; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D015997:Neonatal Screening; D009515:New Jersey; D011446:Prospective Studies
chemical_list: D042964:Acyl-CoA Dehydrogenase