Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Methionine adenosyltransferase I alpha

The protein encoded by MAT1A is an important enzyme of sulfur-containing amino acid metabolism. It is mostly that homozygous loss-of-function mutations cause isolated persistent hypermethioninemia and toxic effects on several organs ensue. Although predominantly an recessive disorder, the mutation p.R264H(CGT>CAT) causes a dominant type of inheritance.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Methionine adenosyltransferase deficiency



Gaull GE et al. (1974) Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia.

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Ubagai T et al. (1995) Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency.

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Chamberlin ME et al. (1996) Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.

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Chamberlin ME et al. (2000) Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations.

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Blom HJ et al. (1992) Persistent hypermethioninaemia with dominant inheritance.

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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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Gahl WA et al. (1987) Hepatic methionine adenosyltransferase deficiency in a 31-year-old man.

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Gaull GE et al. (1981) Hypermethioninemia associated with methionine adenosyltransferase deficiency: clinical, morphologic, and biochemical observations on four patients.

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Mudd SH et al. (1995) Isolated persistent hypermethioninemia.

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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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Orphanet article

Orphanet ID 173216 external link

NCBI article

NCBI 4143 external link

OMIM.ORG article

Omim 610550 external link
Update: Aug. 14, 2020
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