PMID- 28748224
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200930
IS  - 2409-515X (Print)
IS  - 2409-515X (Electronic)
IS  - 2409-515X (Linking)
VI  - 3
IP  - 2
DP  - 2017 Jun
TI  - Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in 
      Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine 
      Palmitoyltransferase 1A (CPT1A) Deficiency.
LID - 10 [pii]
LID - 10.3390/ijns3020010 [doi]
AB  - An 18-month-old male was evaluated after presenting with disproportionately 
      elevated liver transaminases in the setting of acute gastroenteritis. He had 
      marked hepatomegaly on physical exam that was later confirmed with an abdominal 
      ultrasound. Given this clinical picture, suspicion for a fatty acid oxidation 
      disorder was raised. Further investigation revealed that his initial newborn 
      screen was positive for carnitine palmitoyltransferase 1A (CPT1A) deficiency-a 
      rare autosomal recessive disorder of long-chain fatty acid oxidation. 
      Confirmatory biochemical testing in the newborn period showed carnitine levels to 
      be unexpectedly low with a normal acylcarnitine profile. Thus, it was considered 
      to be a false-positive newborn screen and metabolic follow-up was not 
      recommended. Repeat biochemical testing during this hospitalization revealed a 
      normal acylcarnitine profile. The only abnormalities noted were a low proportion 
      of acylcarnitine species from plasma, an elevated free-to-total carnitine ratio, 
      and mild hypoketotic medium chain dicarboxylic aciduria on urine organic acids. 
      Gene sequencing of CPT1A revealed a novel homozygous splice site variant that 
      confirmed his diagnosis. CPT1A deficiency has a population founder effect in the 
      Inuit and other Arctic groups, but has not been previously reported in persons of 
      Ashkenazi Jewish ancestry.
FAU - Dowsett, Leah
AU  - Dowsett L
AD  - Department of Pediatrics, Division of Human Genetics, The Children's Hospital of 
      Philadelphia, 3401 Civic Center Boulevard, Philadelphia, 19104 PA, USA.
AD  - Perelman School of Medicine at the University of Pennsylvania, Philadelphia, 
      19104 PA, USA.
FAU - Lulis, Lauren
AU  - Lulis L
AD  - Department of Pediatrics, Division of Human Genetics, The Children's Hospital of 
      Philadelphia, 3401 Civic Center Boulevard, Philadelphia, 19104 PA, USA.
FAU - Ficicioglu, Can
AU  - Ficicioglu C
AD  - Department of Pediatrics, Division of Human Genetics, The Children's Hospital of 
      Philadelphia, 3401 Civic Center Boulevard, Philadelphia, 19104 PA, USA.
AD  - Perelman School of Medicine at the University of Pennsylvania, Philadelphia, 
      19104 PA, USA.
FAU - Cuddapah, Sanmati
AU  - Cuddapah S
AD  - Department of Pediatrics, Division of Human Genetics, The Children's Hospital of 
      Philadelphia, 3401 Civic Center Boulevard, Philadelphia, 19104 PA, USA.
AD  - Perelman School of Medicine at the University of Pennsylvania, Philadelphia, 
      19104 PA, USA.
LA  - eng
GR  - T32 GM008638/GM/NIGMS NIH HHS/United States
PT  - Journal Article
DEP - 20170428
PL  - Switzerland
TA  - Int J Neonatal Screen
JT  - International journal of neonatal screening
JID - 101665400
PMC - PMC5523953
MID - NIHMS883393
OTO - NOTNLM
OT  - Ashkenazi Jewish
OT  - CPT1A
OT  - carnitine palmitoyltransferase deficiency
OT  - elevated liver transaminases
OT  - fatty acid oxidation disorders
OT  - neonatal screening
COIS- Conflicts of Interest: The authors declare no conflicts of interest.
EDAT- 2017/07/28 06:00
MHDA- 2017/07/28 06:01
PMCR- 2017/07/24
CRDT- 2017/07/28 06:00
PHST- 2017/07/28 06:00 [entrez]
PHST- 2017/07/28 06:00 [pubmed]
PHST- 2017/07/28 06:01 [medline]
PHST- 2017/07/24 00:00 [pmc-release]
AID - 10 [pii]
AID - 10.3390/ijns3020010 [doi]
PST - ppublish
SO  - Int J Neonatal Screen. 2017 Jun;3(2):10. doi: 10.3390/ijns3020010. Epub 2017 Apr 
      28.