| Disease | METHIONINE ADENOSYL TRANSFERASE DEFICIENCY |
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| Synonym | HYPERMETHIONINEMIA; MAT I/III DEFICIENCY |
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| OMIM | 250850
Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes
OMIM = Online Medalian Inheritance of Men |
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| Enzyme | methionine adenosyltransferase, liver
Detailed enzyme information on www.expacy.ch
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| Gene locus |
10q22
Detail information to gene locus by the National Center for Biotechnology Information NCBI:
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| genetests.org |
search search on genetest.org by MIM 250850
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| Summary | rare autosomal recessive "An important finding emerging from this study is that isolated persistent hypermethioninemia is not benign" [Chamberlin et al. 1996] transient hypermethioninemia in infants fed a high-protein diet (Gaull 1977) and of unknown origin (Tsuchiyama 1982, Jhaveri 1982) |
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| Clinical symptoms | |
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Abnormal Findings in
liver |
- Methionine adenosyltransferase
Normal: -100.00 % activity
| Significant : 10.00-20.00 % of normal
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Abnormal Findings in
plasma |
- Homocysteine, total, some cases
| Significant : - increased
- Methionine
Normal: 10.00-30.00 µmol/l
| Significant : 250.00-1300.00 µmol/l
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Abnormal Findings in
urine |
- Methionine
Normal: 2.00-9.00 mmol/mol creatinine
| Significant : - increased
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| Treatment |
- diet
- S-Adenosylmethionine (AdoMet)
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| Literature | There are 13 publications available.
Click here to open the relevant METHIONINE ADENOSYL TRANSFERASE DEFICIENCY publications |
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