Alanine Aminotransferase Deficiency in a Patient With Hyperferritinemia, Steatosis Hepatis, and Hepatosplenomegaly
The glutamate pyruvate transaminase enzyme, also called alanine aminotransferase (ALT), plays an important role in gluconeogenesis and amino acid metabolism. It catalyzes the reversible transamination of L-alanine and α-ketoglutarate to pyruvate and L-glutamate. ALT is mostly located in the liver bu...
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| Format: | Article |
| Language: | English |
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American College of Physicians
2022-10-01
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| Series: | Annals of Internal Medicine: Clinical Cases |
| Online Access: | https://www.acpjournals.org/doi/10.7326/aimcc.2022.0164 |
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| author | Alexander Olkus Sebastian Sailer Katharina Obeid Katrin Hinderhofer Uta Merle Christian P. Schaaf |
| author_facet | Alexander Olkus Sebastian Sailer Katharina Obeid Katrin Hinderhofer Uta Merle Christian P. Schaaf |
| author_sort | Alexander Olkus |
| collection | DOAJ |
| description | The glutamate pyruvate transaminase enzyme, also called alanine aminotransferase (ALT), plays an important role in gluconeogenesis and amino acid metabolism. It catalyzes the reversible transamination of L-alanine and α-ketoglutarate to pyruvate and L-glutamate. ALT is mostly located in the liver but is also present in other organs like kidney, heart, skeletal muscle, pancreas, and spleen. ALT deficiency was reported in a case of hepatitis B and hepatitis C infection, whereas complete absence of ALT, to our knowledge, has only been reported in 1 case of acute liver failure. |
| format | Article |
| id | doaj-art-4d343dafca4f4110880cdeccbb7f1302 |
| institution | DOAJ |
| issn | 2767-7664 |
| language | English |
| publishDate | 2022-10-01 |
| publisher | American College of Physicians |
| record_format | Article |
| series | Annals of Internal Medicine: Clinical Cases |
| spelling | doaj-art-4d343dafca4f4110880cdeccbb7f13022025-08-20T03:18:45ZengAmerican College of PhysiciansAnnals of Internal Medicine: Clinical Cases2767-76642022-10-011810.7326/aimcc.2022.0164Alanine Aminotransferase Deficiency in a Patient With Hyperferritinemia, Steatosis Hepatis, and HepatosplenomegalyAlexander Olkus0Sebastian Sailer1Katharina Obeid2Katrin Hinderhofer3Uta Merle4Christian P. Schaaf51Department of Internal Medicine IV, Heidelberg University Hospital, Heidelberg, Germany2Institute of Human Genetics, Heidelberg University, Heidelberg, Germany2Institute of Human Genetics, Heidelberg University, Heidelberg, Germany2Institute of Human Genetics, Heidelberg University, Heidelberg, Germany1Department of Internal Medicine IV, Heidelberg University Hospital, Heidelberg, Germany2Institute of Human Genetics, Heidelberg University, Heidelberg, GermanyThe glutamate pyruvate transaminase enzyme, also called alanine aminotransferase (ALT), plays an important role in gluconeogenesis and amino acid metabolism. It catalyzes the reversible transamination of L-alanine and α-ketoglutarate to pyruvate and L-glutamate. ALT is mostly located in the liver but is also present in other organs like kidney, heart, skeletal muscle, pancreas, and spleen. ALT deficiency was reported in a case of hepatitis B and hepatitis C infection, whereas complete absence of ALT, to our knowledge, has only been reported in 1 case of acute liver failure.https://www.acpjournals.org/doi/10.7326/aimcc.2022.0164 |
| spellingShingle | Alexander Olkus Sebastian Sailer Katharina Obeid Katrin Hinderhofer Uta Merle Christian P. Schaaf Alanine Aminotransferase Deficiency in a Patient With Hyperferritinemia, Steatosis Hepatis, and Hepatosplenomegaly Annals of Internal Medicine: Clinical Cases |
| title | Alanine Aminotransferase Deficiency in a Patient With Hyperferritinemia, Steatosis Hepatis, and Hepatosplenomegaly |
| title_full | Alanine Aminotransferase Deficiency in a Patient With Hyperferritinemia, Steatosis Hepatis, and Hepatosplenomegaly |
| title_fullStr | Alanine Aminotransferase Deficiency in a Patient With Hyperferritinemia, Steatosis Hepatis, and Hepatosplenomegaly |
| title_full_unstemmed | Alanine Aminotransferase Deficiency in a Patient With Hyperferritinemia, Steatosis Hepatis, and Hepatosplenomegaly |
| title_short | Alanine Aminotransferase Deficiency in a Patient With Hyperferritinemia, Steatosis Hepatis, and Hepatosplenomegaly |
| title_sort | alanine aminotransferase deficiency in a patient with hyperferritinemia steatosis hepatis and hepatosplenomegaly |
| url | https://www.acpjournals.org/doi/10.7326/aimcc.2022.0164 |
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