title: Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.
abstract: Carnitine palmitoyltransferase-II (CPT-II) deficiency can be detected through newborn screening with tandem mass spectrometry. We report a 4-year-old patient with rhabdomyolysis due to CPT-II deficiency, which was initially missed by newborn screening. The patient presented with a 2-day history of fevers, upper respiratory infection, diffuse myalgia, and tea-colored urine. Her medical history was notable for frequent diffuse myalgia when ill. She was demonstrated to have homozygous mutation c.338C>T, p. S113L in CPT2, which is typically found in the adult-onset, myopathic form of the disease. An unknown number of CPT-II deficient patients with normal newborn screening have not yet presented to medical care with the adult-onset, myopathic form of disease. We conclude that (1) not all cases of CPT-II deficiency are currently detected through newborn screening, even when blood is appropriately collected on day 2 of life and (2) CPT-II deficiency should be kept on the differential for patients presenting with rhabdomyolysis, even if the newborn screening results were normal.
authors.affiliation: Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.|Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.
authors.forename: Andrew C
authors.initials: AC
authors.lastname: Edmondson
authors.affiliation: Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Salant
authors.affiliation: Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.|Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.
authors.forename: Lynne A
authors.initials: LA
authors.lastname: Ierardi-Curto
authors.affiliation: Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA. Ficicioglu@email.chop.edu.|Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA. Ficicioglu@email.chop.edu.
authors.forename: Can
authors.initials: C
authors.lastname: Ficicioglu