Chapter title |
Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency
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Chapter number | 528 |
Book title |
JIMD Reports, Volume 33
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Published in |
JIMD Reports, January 2016
|
DOI | 10.1007/8904_2016_528 |
Pubmed ID | |
Book ISBNs |
978-3-66-255011-3, 978-3-66-255012-0
|
Authors |
Andrew C. Edmondson, Jennifer Salant, Lynne A. Ierardi-Curto, Can Ficicioglu, Edmondson, Andrew C., Salant, Jennifer, Ierardi-Curto, Lynne A., Ficicioglu, Can |
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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 61 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 2 | 3% |
Researcher | 2 | 3% |
Student > Bachelor | 1 | 2% |
Student > Master | 1 | 2% |
Unknown | 55 | 90% |
Readers by discipline | Count | As % |
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Agricultural and Biological Sciences | 2 | 3% |
Biochemistry, Genetics and Molecular Biology | 1 | 2% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 2% |
Psychology | 1 | 2% |
Medicine and Dentistry | 1 | 2% |
Other | 0 | 0% |
Unknown | 55 | 90% |