Résumé
Early‐onset carnitine palmitoyltransferase II deficiency (CPT II deficiency) (OMIM 600650) can result in severe outcomes, which are often fatal in the neonatal to infantile period. CPT II deficiency is a primary target in the Maritime Newborn Screening Program. We report a case of neona-tal‐onset CPT II deficiency identified through expanded newborn screening with tandem mass spec-trometry. Identification through newborn screening led to early treatment interventions, avoidance of metabolic decompensation, and a better clinical outcome. Newborn screening for CPT II deficiency is highly sensitive and specific with no false positives identified. The only screen positive case detected identified a true positive case. This experience illustrates the importance of newborn screening for CPT II deficiency and demonstrates why reconsideration should be taken to add this disease as a primary newborn screening target.
Langue d'origine | English |
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Numéro d'article | 55 |
Journal | International Journal of Neonatal Screening |
Volume | 7 |
Numéro de publication | 3 |
DOI | |
Statut de publication | Published - sept. 2021 |
Note bibliographique
Funding Information:Thank you to Tanya Letourneau for formatting this manuscript and to Jillian Bujold for helping with data collection. Thank you to Ali Dyack for further formatting of the manuscript. Thank you to the patient’s family for reviewing the manuscript and consenting to its publication. This manuscript was approved for submission by the Chair of the IWK Research Ethics Board.
Publisher Copyright:
© 2021 by the authors. Licensee MDPI, Basel, Switzerland.
ASJC Scopus Subject Areas
- Pediatrics, Perinatology, and Child Health
- Immunology and Microbiology (miscellaneous)
- Obstetrics and Gynaecology
PubMed: MeSH publication types
- Case Reports