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| Main Author: | |
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| Format: | Artículo científico |
| Language: | en |
| Published: |
Hospital Universitário da Universidade de São Paulo
2024
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| Subjects: | |
| Online Access: | https://www.redalyc.org/articulo.oa?id=576077572017 https://www.redalyc.org/journal/5760/576077572017/ https://www.redalyc.org/journal/5760/576077572017/html/ https://www.redalyc.org/journal/5760/576077572017/576077572017.epub https://www.redalyc.org/journal/5760/576077572017/movil |
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Table of Contents:
- Carnitine-acylcarnitine translocase deficiency: a case report with autopsy Chennakeshava Thunga Suvradeep Mitra Devi Dayal Sadhna Lal Medicina Autopsy Pathology Fatty liver Fatty acid oxidation defects are a heterogeneous group of disorders related to the mitochondrial fatty acid oxidation pathway. Carnitine acylcarnitine translocase (CACT) is an enzyme responsible for the unidirectional transport of acylcarnitine across the inner mitochondrial membrane. This enzyme plays a crucial role in the oxidation of fatty acids. The autopsy pathology of the CACT deficiency is described in only a few cases. We describe the autopsy pathology of a child with CACT deficiency dominantly in the form of microvesicular steatosis of the hepatocytes, renal proximal tubular epithelia, cardiac myocytes, and rhabdomyocytes. The diagnosis was further confirmed on whole exome sequencing with compound heterozygous variants in the exon 1 (c.82G>T, p.Gly28Cys; likely pathogenic) and exon 5 (c.535G>A, p.Asp179Asn; uncertain significance) of the SLC25A20 gene. This case elucidates the histopathology of the liver and the detailed autopsy of a case of CACT deficiency from India. 2024 otro 2236-1960 https://www.redalyc.org/articulo.oa?id=576077572017 https://www.redalyc.org/journal/5760/576077572017/ https://www.redalyc.org/journal/5760/576077572017/html/ https://www.redalyc.org/journal/5760/576077572017/576077572017.epub https://www.redalyc.org/journal/5760/576077572017/movil 10.4322/acr.2024.483 en http://www.redalyc.org/revista.oa?id=5760 Autopsy and Case Reports application/pdf Hospital Universitário da Universidade de São Paulo Autopsy and Case Reports (Brasil) Vol.14