Methioninadenosyltransferase I alpha
Das Genprodukt von MAT1A ist eine wichtiges Enzym im Stoffechsel schwefelhaltiger Aminosäuren. In der Regel führen homozygote loss-of-function Mutationen führen zu einem Methioninadenosyltransferase-Mangel, der durch toxische Schäden der Hypermethioninämie gekennzeichnet ist. Obwohl die Erkrankung überwiegend rezessiv vererbt wird, besteht für die Mutation p.R264H(CGT>CAT) ein dominanter Erbgang.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Gaull GE et al. (1974) Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia.
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2. |
Ubagai T et al. (1995) Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency.
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3. |
Chamberlin ME et al. (1996) Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.
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4. |
Chamberlin ME et al. (2000) Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations.
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5. |
Blom HJ et al. (1992) Persistent hypermethioninaemia with dominant inheritance.
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6. |
Surtees R et al. () Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway.
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7. |
Gahl WA et al. (1987) Hepatic methionine adenosyltransferase deficiency in a 31-year-old man.
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8. |
Gaull GE et al. (1981) Hypermethioninemia associated with methionine adenosyltransferase deficiency: clinical, morphologic, and biochemical observations on four patients.
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9. |
Mudd SH et al. (1995) Isolated persistent hypermethioninemia.
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10. |
Hazelwood S et al. (1998) Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III.
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11. |
Orphanet article
Orphanet ID 173216
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12. |
NCBI article
NCBI 4143
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13. |
OMIM.ORG article
Omim 610550
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Update: 14. August 2020