دورية أكاديمية
A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion.
العنوان: | A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion. |
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المؤلفون: | Mathew RP; BRIC-Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.; Manipal Academy of Higher Education, Manipal, India., Ranya Raghavendra P; KEM Hospital, Mumbai, India., Disha B; BRIC-Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.; Regional Centre for Biotechnology, Faridabad, India., Dalal A; BRIC-Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Govindaraj P; BRIC-Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India. |
المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul 01, pp. e63809. Date of Electronic Publication: 2024 Jul 01. |
Publication Model: | Ahead of Print |
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- |
مستخلص: | Carbonic anhydrase 5A (CA5A) belongs to a family of carbonic anhydrases which are zinc metalloenzymes involved in the reversible hydration of CO (© 2024 Wiley Periodicals LLC.) |
References: | Diez‐Fernandez, C., Rüfenacht, V., Santra, S., Lund, A. M., Santer, R., Lindner, M., Tangeraas, T., Unsinn, C., de Lonlay, P., Burlina, A., van Karnebeek, C. D. M., & Häberle, J. (2016). Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early‐onset life‐threatening metabolic crises. Genetics in Medicine, 18(10), 991–1000. Ganesh, R., & Karthik, N. R. (2024). An extremely rare cause of hyperammonemic encephalopathy in an infant. Indian Journal of Pediatrics, 91(1), 88. Mani Urmila, N., Kewalramani, D., Balakrishnan, U., & Manokaran, R. K. (2022). A case of carbonic anhydrase type VA deficiency presenting as west syndrome in an infant with a novel mutation in the CA‐VA gene. Epilepsy & Behavior Reports, 20, 100573. Marwaha, A., Ibrahim, J., Rice, T., Hamwi, N., Rupar, C. A., Cresswell, D., Prasad, C., & Schulze, A. (2021). Two cases of carbonic anhydrase VA deficiency—An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome. JIMD Reports, 57(1), 9–14. Miller, M. J., Luu, S. M., & Graham, B. H. (2021). Acute hyperammonemia, lactic acidosis, and ketoacidosis in a developmentally normal child. Clinical Chemistry, 67(11), 1572–1574. Nagao, Y., Batanian, J. R., Clemente, M. F., & Sly, W. S. (1995). Genomic organization of the human gene (CAS) and pseudogene for mitochondrial carbonic anhydrase V and their localization to chromosomes 16q and 16p. Genomics, 28(3), 477–484. Olgac, A., Kasapkara, C. S., Kilic, M., Keskin, E. Y., Sandal, G., Cram, D. S., Haberle, J., & Torun, D. (2020). Carbonic anhydrase VA deficiency: A very rare case of hyperammonemic encephalopathy. Journal of Pediatric Endocrinology & Metabolism, 33(10), 1349–1352. Semenova, N., Marakhonov, A., Ampleeva, M., Kurkina, M., Baydakova, G., Skoblov, M., Taran, N., Babak, O., Shchukina, E., & Strokova, T. (2022). Hyperammonemia in Russia due to carbonic anhydrase VA deficiency caused by homozygous mutation p.Lys185Lys (c.555G>A) of the CA5A gene. International Journal of Molecular Sciences, 23(23), 15026. Steyaert, W., Verschuere, S., Coucke, P. J., & Vanakker, O. M. (2021). Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model. Journal of Genetics and Genomics, 48(4), 289–299. Valadan, R., Amjadi, O., Tehrani, M., Rafiei, A., Hedayatizadeh‐Omran, A., & Alizadeh‐Navaei, R. (2015). Pseudogene‐free amplification of HPRT1 in quantitative reverse transcriptase polymerase chain reaction. Analytical Biochemistry, 485, 46–48. van Karnebeek, C. D., Sly, W. S., Ross, C. J., Salvarinova, R., Yaplito‐Lee, J., Santra, S., Shyr, C., Horvath, G. A., Eydoux, P., Lehman, A. M., Bernard, V., Newlove, T., Ukpeh, H., Chakrapani, A., Preece, M. A., Ball, S., Pitt, J., Vallance, H. D., Coulter‐Mackie, M., … Stockler‐Ipsiroglu, S. (2014). Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. The American Journal of Human Genetics, 94(3), 453–461. |
معلومات مُعتمدة: | Department of Biotechnology, Government of India |
فهرسة مساهمة: | Keywords: CA5A; compound heterozygous; hyperammonemia; mitochondrial genetics; pseudogene |
تواريخ الأحداث: | Date Created: 20240701 Latest Revision: 20240701 |
رمز التحديث: | 20240701 |
DOI: | 10.1002/ajmg.a.63809 |
PMID: | 38949089 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1552-4833 |
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DOI: | 10.1002/ajmg.a.63809 |