دورية أكاديمية
The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience
| العنوان: | The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience |
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| المؤلفون: | Huseyin Bilgin, Ayse Ergul Bozaci |
| المصدر: | Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101070- (2024) |
| بيانات النشر: | Elsevier, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Medicine (General) LCC:Biology (General) |
| مصطلحات موضوعية: | Creatine kinase, Glutaric aciduria type 2, Inborn errors of metabolism, Rhabdomyolysis, Medicine (General), R5-920, Biology (General), QH301-705.5 |
| الوصف: | Aim: It was aimed to identify markers that would indicate which cases presenting with rhabdomyolysis are more likely to be associated with inherited metabolic diseases. Methods: We analyzed 327 children who applied to our Hospital Pediatric Nutrition and Metabolic Diseases Clinic with rhabdomyolysis. The diagnosis of rhabdomyolysis was made by measuring the serum creatinine kinase level in cases presenting with muscle pain, weakness and dark urine. Results: Metabolic disease was detected in 29 (16/13, M/F) patients from 26 different families. 298 patients (165/133, M/F) had normal metabolic work-up. We detected glutaric aciduria type 2 in 13 patients (44,6%), glycogen storage disease type 5 in three patients (10,3%), MCAD deficiency in three patients(10,3%), mitochondrial disease in three patients (10,3%), glycogen storage disease type 9 in one patient (3,5%), VLCAD deficiency in one patient (3,5%), LCHAD deficiency in one patient (3,5%), CPT2 deficiency in one patient(3,5%), Tango2 deficiency in one patient (3,5%), lipin-1 deficiency in one patient (3,5%) and primary carnitine deficiency in one patient (3,5%). Conclusion: In our study, consanguineous marriage, developmental delay, and intellectual disability were found more frequently in patients with metabolic disease. In addition, CK levels above 2610 U/L was found to be significantly correlated with metabolic disease. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2214-4269 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2214426924000235; https://doaj.org/toc/2214-4269 |
| DOI: | 10.1016/j.ymgmr.2024.101070 |
| URL الوصول: | https://doaj.org/article/885cd080925043b194b2ea2efaa2d4df |
| رقم الأكسشن: | edsdoj.885cd080925043b194b2ea2efaa2d4df |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 22144269 |
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| DOI: | 10.1016/j.ymgmr.2024.101070 |