title: Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.
abstract: We report three patients with elevations of propionylcarnitine (C3), one without elevations of 2-methylcitrate and 3-hydroxypropionate in urine organic acid analysis, and the other two showing only mild elevations, all of whom were subsequently confirmed to have propionic acidemia by molecular analysis of PCCA and PCCB genes. To date, they have had a mild clinical course. These cases illustrate the importance of considering high C3 as the only biochemical abnormality in a diagnosis of propionic acidemia. Since mild C3 elevations may be overlooked and considered non-diagnostic in isolation, we advise considering a diagnosis of propionic acidemia even in the absence of significant elevations 2-methylcitrate or 3-hydroxypropionate in urine organic acid analysis.
authors.affiliation: Department of Translational Medicine, Sector of Pediatrics, University of Naples Federico II, Naples, Italy.|Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.|Baylor Genetics Laboratories, One Baylor Plaza, Houston, TX, 77030, USA.
authors.forename: Gerarda
authors.initials: G
authors.lastname: Cappuccio
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.|Baylor Genetics Laboratories, One Baylor Plaza, Houston, TX, 77030, USA.|Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, 32224, USA.
authors.forename: Paldeep S
authors.initials: PS
authors.lastname: Atwal
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.|Baylor Genetics Laboratories, One Baylor Plaza, Houston, TX, 77030, USA.
authors.forename: Taraka R
authors.initials: TR
authors.lastname: Donti
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.
authors.forename: Kiki
authors.initials: K
authors.lastname: Ugarte
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.
authors.forename: Nadia
authors.initials: N
authors.lastname: Merchant
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.
authors.forename: William J
authors.initials: WJ
authors.lastname: Craigen
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.|Baylor Genetics Laboratories, One Baylor Plaza, Houston, TX, 77030, USA.
authors.forename: V Reid
authors.initials: VR
authors.lastname: Sutton
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. elsea@bcm.edu.
authors.forename: Sarah H
authors.initials: SH
authors.lastname: Elsea
keywords: 2-Methylcitrate; 3-Hydroxypropionate; Acyl-carnitine; Atypical Phenotype; C3; Propionic acidemia