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.
The original version of this chapter was revised. An erratum to this chapter can be found at DOI 10.1007/8904_2017_587.
Competing interests: None declared
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Acknowledgments
The authors thank Kathryn Kadash-Edmondson for critical reading of the manuscript and Rebecca Ganetzky, MD, for help with R4S analysis.
The authors also thank Piero Rinaldo, MD, PhD, Mayo Clinic, for his assistance in the preparation of the figures and for granting permission to reproduce material from the R4S and CLIR websites.
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Communicated by: Michael J Bennett, PhD
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Synopsis
CPT-II deficiency should be kept on the differential for patients presenting with recurrent rhabdomyolysis, even if the newborn screening results were normal, because this disorder can be missed on newborn screening, and the treatments, complications, and recurrence rates of rhabdomyolysis in CPT-II-deficient patients differ from those of standard rhabdomyolysis.
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Dr. Andrew Edmondson, Dr. Jennifer Salant, Dr. Lynne Ierardi-Curto, and Dr. Can Ficicioglu declare that they have no conflicts of interest.
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This article does not contain any studies with human or animal subjects performed by any of the authors.
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Dr. Edmondson drafted the initial manuscript and revised the manuscript.
Dr. Salant contributed to drafting the initial manuscript.
Dr. Ierardi-Curto critically reviewed and revised the manuscript.
Dr. Ficicioglu critically reviewed and revised the manuscript.
All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.
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Edmondson, A.C., Salant, J., Ierardi-Curto, L.A., Ficicioglu, C. (2016). Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 33. JIMD Reports, vol 33. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2016_528
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DOI: https://doi.org/10.1007/8904_2016_528
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