Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations
Marwan Nashabat,1 Sultan Al-Khenaizan,2 Majid Alfadhel1 1King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh...
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2018-02-01
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| Series: | Therapeutics and Clinical Risk Management |
| Subjects: | |
| Online Access: | https://www.dovepress.com/methionine-adenosyltransferase-iiii-deficiency-beyond-the-central-nerv-peer-reviewed-article-TCRM |
| _version_ | 1818581598375772160 |
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| author | Nashabat M Al-Khenaizan S Alfadhel M |
| author_facet | Nashabat M Al-Khenaizan S Alfadhel M |
| author_sort | Nashabat M |
| collection | DOAJ |
| description | Marwan Nashabat,1 Sultan Al-Khenaizan,2 Majid Alfadhel1 1King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia; 2Department of Dermatology, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia Abstract: Methionine adenosyltransferase (MAT) I/III deficiency (OMIM # 250850) is caused by a mutation in MAT1A, which encodes the two hepatic MAT isozymes I and III. With the implementation of newborn screening program to discover hypermethioninemia due to cystathionine beta-synthase deficiency, more cases are being discovered. While the majority of patients are asymptomatic, some might have central nervous system (CNS) and extra-CNS manifestations. Although neurologic manifestations and demyelination have been correlated to MAT deficiency in many reported cases, none of the previous reports focused on extra-CNS manifestations associated with the disease. This is a retrospective chart review for a 40-month-old patient with confirmed diagnosis of MAT deficiency. He was found to have a novel homozygous disease-causing variant in MAT1A (NM_000429.2) c.1081G>T (p.Val361Phe). Interestingly, our patient had an unexplained zinc and iron deficiency in addition to mild speech delay. We reviewed the literature and summarized all the reported extra-CNS manifestations. In conclusion, MAT deficiency patients should be thoroughly investigated to check for CNS and extra-CNS manifestations associated with the disease. Keeping in consideration the challenge of assuming correlation, a scrutinized look at extra-CNS manifestations and their course with time might pave the way to understanding the pathophysiology of the disease and MAT1A function. Keywords: MAT1A, methionine adenosyltransferase, S-adenosyl methionine, central nervous system |
| first_indexed | 2024-12-16T07:36:02Z |
| format | Article |
| id | doaj.art-f16ff1c0d9f24ef8a56ece4f7a24108e |
| institution | Directory Open Access Journal |
| issn | 1178-203X |
| language | English |
| last_indexed | 2024-12-16T07:36:02Z |
| publishDate | 2018-02-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | Therapeutics and Clinical Risk Management |
| spelling | doaj.art-f16ff1c0d9f24ef8a56ece4f7a24108e2022-12-21T22:39:13ZengDove Medical PressTherapeutics and Clinical Risk Management1178-203X2018-02-01Volume 1422522936651Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestationsNashabat MAl-Khenaizan SAlfadhel MMarwan Nashabat,1 Sultan Al-Khenaizan,2 Majid Alfadhel1 1King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia; 2Department of Dermatology, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia Abstract: Methionine adenosyltransferase (MAT) I/III deficiency (OMIM # 250850) is caused by a mutation in MAT1A, which encodes the two hepatic MAT isozymes I and III. With the implementation of newborn screening program to discover hypermethioninemia due to cystathionine beta-synthase deficiency, more cases are being discovered. While the majority of patients are asymptomatic, some might have central nervous system (CNS) and extra-CNS manifestations. Although neurologic manifestations and demyelination have been correlated to MAT deficiency in many reported cases, none of the previous reports focused on extra-CNS manifestations associated with the disease. This is a retrospective chart review for a 40-month-old patient with confirmed diagnosis of MAT deficiency. He was found to have a novel homozygous disease-causing variant in MAT1A (NM_000429.2) c.1081G>T (p.Val361Phe). Interestingly, our patient had an unexplained zinc and iron deficiency in addition to mild speech delay. We reviewed the literature and summarized all the reported extra-CNS manifestations. In conclusion, MAT deficiency patients should be thoroughly investigated to check for CNS and extra-CNS manifestations associated with the disease. Keeping in consideration the challenge of assuming correlation, a scrutinized look at extra-CNS manifestations and their course with time might pave the way to understanding the pathophysiology of the disease and MAT1A function. Keywords: MAT1A, methionine adenosyltransferase, S-adenosyl methionine, central nervous system https://www.dovepress.com/methionine-adenosyltransferase-iiii-deficiency-beyond-the-central-nerv-peer-reviewed-article-TCRMMAT1AMethionine AdenosyltransferaseS-adenosyl methionineCentral Nervous System. |
| spellingShingle | Nashabat M Al-Khenaizan S Alfadhel M Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations Therapeutics and Clinical Risk Management MAT1A Methionine Adenosyltransferase S-adenosyl methionine Central Nervous System. |
| title | Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations |
| title_full | Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations |
| title_fullStr | Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations |
| title_full_unstemmed | Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations |
| title_short | Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations |
| title_sort | methionine adenosyltransferase i iii deficiency beyond the central nervous system manifestations |
| topic | MAT1A Methionine Adenosyltransferase S-adenosyl methionine Central Nervous System. |
| url | https://www.dovepress.com/methionine-adenosyltransferase-iiii-deficiency-beyond-the-central-nerv-peer-reviewed-article-TCRM |
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