title: Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening.
abstract: Medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare cause of impaired mitochondrial fatty acid oxidation. We present a case report of a patient with hyperinsulinism and homozygosity for a novel mutation causing a kinetic variant of the enzyme. The diagnosis was initially inferred by abnormal newborn screening acylcarnitine analysis with elevated C4-hydroxyacylcarnitine.
authors.affiliation: Newborn Screening Unit, National Institute of Health, Porto, Portugal. laura.vilarinho@insa.min-saude.pt
authors.forename: Laura
authors.initials: L
authors.lastname: Vilarinho
authors.forename: Jorge Sales
authors.initials: JS
authors.lastname: Marques
authors.forename: Hugo
authors.initials: H
authors.lastname: Rocha
authors.forename: Altina
authors.initials: A
authors.lastname: Ramos
authors.forename: Lurdes
authors.initials: L
authors.lastname: Lopes
authors.forename: Srinivas B
authors.initials: SB
authors.lastname: Narayan
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Bennett
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D002331:Carnitine / Q000031:analogs & derivatives / Q000378:metabolism; D002675:Child, Preschool; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D008969:Molecular Sequence Data; D009154:Mutation; D015997:Neonatal Screening
chemical_list: C116917:acylcarnitine; D015094:3-Hydroxyacyl CoA Dehydrogenases; D002331:Carnitine