دورية أكاديمية
Diagnostic pitfall in antenatal manifestations of CPT II deficiency.
| العنوان: | Diagnostic pitfall in antenatal manifestations of CPT II deficiency. |
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| المؤلفون: | BOEMER, François, DEBERG, Michelle, SCHOOS, Roland, CABERG, Jean-Hubert, GAILLEZ, Stephanie, Dugauquier, C., Delbecque, K., François, A., Maton, P., Demonceau, N., Senterre, G., Ferdinandusse, S., DEBRAY, François-Guillaume |
| المصدر: | Clinical Genetics (2016) |
| بيانات النشر: | Wiley |
| سنة النشر: | 2016 |
| المجموعة: | University of Liège: ORBi (Open Repository and Bibliography) |
| مصطلحات موضوعية: | Dandy-Walker malformation, acylcarnitines, carnitine palmitoyltransferase type 2 deficiency, cerebral dysgenesis, inborn error of metabolism, prenatal diagnosis, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques |
| الوصف: | peer reviewed ; Carnitine palmitoyltransferase II (CPT2) deficiency is a rare inborn error of mitochondrial fatty acid metabolism associated with various phenotypes. Whereas most patients present with postnatal signs of energetic failure affecting muscle and liver, a small subset of patients presents antenatal malformations including brain dysgenesis and neuronal migration defects. Here, we report recurrence of severe cerebral dysgenesis with Dandy-Walker malformation in three successive pregnancies and review previously reported antenatal cases. Interestingly, we also report that acylcarnitines profile, tested retrospectively on the amniotic fluid of last pregnancy, was not sensitive enough to allow reliable prenatal diagnosis of CPT2 deficiency. Finally, because fetuses affected by severe cerebral malformations are frequently aborted, CPT2 deficiency may be underestimated and fatty acid oxidation disorders should be considered when faced with a fetus with Dandy-Walker anomaly or another brain dysgenesis. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0009-9163 1399-0004 |
| العلاقة: | urn:issn:0009-9163; urn:issn:1399-0004; https://orbi.uliege.be/handle/2268/181469Test; info:hdl:2268/181469; scopus-id:2-s2.0-84946163183; info:pmid:25827434 |
| DOI: | 10.1111/cge.12593 |
| الإتاحة: | https://doi.org/10.1111/cge.12593Test https://orbi.uliege.be/handle/2268/181469Test |
| حقوق: | restricted access ; http://purl.org/coar/access_right/c_16ecTest ; info:eu-repo/semantics/restrictedAccess |
| رقم الانضمام: | edsbas.CB929E78 |
| قاعدة البيانات: | BASE |
| تدمد: | 00099163 13990004 |
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| DOI: | 10.1111/cge.12593 |