دورية أكاديمية
Mitochondrial phosphate-carrier deficiency mimicking infantile-onset Pompe disease.
| العنوان: | Mitochondrial phosphate-carrier deficiency mimicking infantile-onset Pompe disease. |
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| المؤلفون: | Küçükcongar Yavaş A; Department of Pediatrics, Ankara Bilkent City Hospital, Ankara, Turkey.; Department of Pediatric Metabolic Diseases, Ankara Bilkent City Hospital, Ankara, Turkey., Basan H; Department of Pediatrics, Ankara Bilkent City Hospital, Ankara, Turkey.; Department of Pediatric Metabolic Diseases, Ankara Bilkent City Hospital, Ankara, Turkey., Dinçer S; Department of Pediatrics, Ankara Bilkent City Hospital, Ankara, Turkey.; Department of Pediatric Metabolic Diseases, Ankara Bilkent City Hospital, Ankara, Turkey., Bilginer Gürbüz B; Department of Pediatrics, Ankara Bilkent City Hospital, Ankara, Turkey.; Department of Pediatric Metabolic Diseases, Ankara Bilkent City Hospital, Ankara, Turkey., Kasapkara ÇS; Department of Pediatrics, Ankara Bilkent City Hospital, Ankara, Turkey.; Department of Pediatric Metabolic Diseases, Ankara Bilkent City Hospital, Ankara, Turkey. |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63643. Date of Electronic Publication: 2024 Apr 24. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Hoboken, N.J. : Wiley-Blackwell Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
| مواضيع طبية MeSH: | Glycogen Storage Disease Type II*/genetics , Glycogen Storage Disease Type II*/diagnosis , Glycogen Storage Disease Type II*/pathology , Phosphate Transport Proteins*/genetics , Mitochondria*/genetics , Mitochondria*/metabolism , Mitochondria*/pathology, Humans ; Infant ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/pathology ; Mutation/genetics ; Diagnosis, Differential ; Male ; Female ; Phosphates/blood ; Phosphates/metabolism ; Acidosis, Lactic/genetics ; Acidosis, Lactic/diagnosis |
| مستخلص: | The mitochondrial phosphate carrier is critical for adenosine triphosphate synthesis by serving as the primary means for mitochondrial phosphate import across the inner membrane. Variants in the SLC25A3 gene coding mitochondrial phosphate carrier lead to failure in inorganic phosphate transport across mitochondria. The critical dependence on mitochondria as an energy source is especially evident in tissues with high-energy demands such as the heart, muscle; defects in the mitochondrial energy production machinery underlie a wide range of primary mitochondrial disorders that present with cardiac and muscle diseases. The characteristic clinical picture of a prominent early-onset hypertrophic cardiomyopathy and lactic acidosis may be an indication for analysis of the SLC25A3 gene. Here, described a patient with suspicion of infantile Pompe disease due to involvement of heart and muscle and high-level of plasma creatinine kinase but finally diagnosed mitochondrial phosphate-carrier deficiency. (© 2024 Wiley Periodicals LLC.) |
| References: | Bhoj, E. J., Li, M., Ahrens‐Nicklas, R., Pyle, L. C., Wang, J., Zhang, V. W., Clarke, C., Wong, L. J., Sondheimer, N., Ficicioglu, C., & Yudkoff, M. (2015). Pathologic variants of the mitochondrial phosphate carrier SLC25A3: Two new patients and expansion of the cardiomyopathy/skeletal myopathy phenotype with and without lactic acidosis. JIMD Rep, 19, 59–66. https://doi.org/10.1007/8904_2014_364. Honzík, T., Tesarová, M., Mayr, J. A., Hansíková, H., Jesina, P., Bodamer, O., Koch, J., Magner, M., Freisinger, P., Huemer, M., Kostková, O., van Coster, R., Kmoch, S., Houstêk, J., Sperl, W., & Zeman, J. (2010). Mitochondrial encephalocardio‐myopathy with early neonatal onset due to TMEM70 mutation. Archives of Disease in Childhood, 95(4), 296–301. https://doi.org/10.1136/adc.2009.168096. Mayr, J. A., Merkel, O., Kohlwein, S. D., Gebhardt, B. R., Böhles, H., Fötschl, U., Koch, J., Jaksch, M., Lochmüller, H., Horváth, R., Freisinger, P., & Sperl, W. (2007). Mitochondrial phosphate‐carrier deficiency: A novel disorder of oxidative phosphorylation. American Journal of Human Genetics, 80(3), 478–484. https://doi.org/10.1086/511788. Mayr, J. A., Zimmermann, F. A., Horváth, R., Schneider, H. C., Schoser, B., Holinski‐Feder, E., Czermin, B., Freisinger, P., & Sperl, W. (2011). Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children. Neuromuscular Disorders, 21(11), 803–808. https://doi.org/10.1016/j.nmd.2011.06.005. Palmieri, F., Scarcia, P., & Monné, M. (2020). Diseases caused by mutations in mitochondrial carrier genes SLC25: A review. Biomolecules, 10(4), 655. https://doi.org/10.3390/biom10040655. |
| فهرسة مساهمة: | Keywords: adenosine triphosphate synthesis; cardiomyopathy; elevated creatinine kinase; muscular hypotonia |
| المشرفين على المادة: | 0 (Phosphate Transport Proteins) 0 (Phosphates) |
| تواريخ الأحداث: | Date Created: 20240424 Date Completed: 20240809 Latest Revision: 20240813 |
| رمز التحديث: | 20240813 |
| DOI: | 10.1002/ajmg.a.63643 |
| PMID: | 38656665 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63643 |