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Correction: Loeber, Gerard. ISNS 9th International Symposium, The Hague, The Netherlands, September 11–14, 2016. Int. J. Neonatal Screen. 2016, 2, 5
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Int. J. Neonatal Screen. 2017, 3(2), 10; doi:10.3390/ijns3020010

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

1
Department of Pediatrics, Division of Human Genetics, The Children’s Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, 19104 PA, USA
2
Perelman School of Medicine at the University of Pennsylvania, Philadelphia, 19104 PA, USA
*
Author to whom correspondence should be addressed.
Academic Editor: Ralph Fingerhut
Received: 8 March 2017 / Revised: 21 April 2017 / Accepted: 24 April 2017 / Published: 28 April 2017
View Full-Text   |   Download PDF [2328 KB, uploaded 28 April 2017]   |  

Abstract

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. View Full-Text
Keywords: carnitine palmitoyltransferase deficiency; CPT1A; fatty acid oxidation disorders; elevated liver transaminases; Ashkenazi Jewish; neonatal screening carnitine palmitoyltransferase deficiency; CPT1A; fatty acid oxidation disorders; elevated liver transaminases; Ashkenazi Jewish; neonatal screening
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Dowsett, L.; Lulis, L.; Ficicioglu, C.; Cuddapah, S. 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. Int. J. Neonatal Screen. 2017, 3, 10.

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