PMID- 27067077
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20240326
IS  - 2192-8304 (Print)
IS  - 2192-8312 (Electronic)
IS  - 2192-8304 (Linking)
VI  - 33
DP  - 2017
TI  - Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.
PG  - 93-97
LID - 10.1007/8904_2016_528 [doi]
AB  - 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.
FAU - Edmondson, Andrew C
AU  - Edmondson AC
AD  - Section of Metabolic Disease, The Children's Hospital of Philadelphia, 
      Philadelphia, 19104, PA, USA.
AD  - Department of Pediatrics, Perelman School of Medicine at the University of 
      Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, 19104, 
      PA, USA.
FAU - Salant, Jennifer
AU  - Salant J
AD  - Department of Pediatrics, Perelman School of Medicine at the University of 
      Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, 19104, 
      PA, USA.
FAU - Ierardi-Curto, Lynne A
AU  - Ierardi-Curto LA
AD  - Section of Metabolic Disease, The Children's Hospital of Philadelphia, 
      Philadelphia, 19104, PA, USA.
AD  - Department of Pediatrics, Perelman School of Medicine at the University of 
      Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, 19104, 
      PA, USA.
FAU - Ficicioglu, Can
AU  - Ficicioglu C
AD  - Section of Metabolic Disease, The Children's Hospital of Philadelphia, 
      Philadelphia, 19104, PA, USA. Ficicioglu@email.chop.edu.
AD  - 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.
LA  - eng
PT  - Journal Article
DEP - 20160412
PL  - United States
TA  - JIMD Rep
JT  - JIMD reports
JID - 101568557
EIN - JIMD Rep. 2017;33:109-110. PMID: 28409479
PMC - PMC5413452
COIS- Dr. Andrew Edmondson, Dr. Jennifer Salant, Dr. Lynne Ierardi-Curto, and Dr. Can 
      Ficicioglu declare that they have no conflicts of interest.
EDAT- 2016/04/14 06:00
MHDA- 2016/04/14 06:01
PMCR- 2016/04/12
CRDT- 2016/04/13 06:00
PHST- 2015/08/03 00:00 [received]
PHST- 2015/12/04 00:00 [accepted]
PHST- 2015/12/02 00:00 [revised]
PHST- 2016/04/14 06:00 [pubmed]
PHST- 2016/04/14 06:01 [medline]
PHST- 2016/04/13 06:00 [entrez]
PHST- 2016/04/12 00:00 [pmc-release]
AID - 528 [pii]
AID - 10.1007/8904_2016_528 [doi]
PST - ppublish
SO  - JIMD Rep. 2017;33:93-97. doi: 10.1007/8904_2016_528. Epub 2016 Apr 12.