Hepatic methionine adenosyltransferase deficiency

Common Name(s)

Hepatic methionine adenosyltransferase deficiency

Methionine adenosyltransferase deficiency is an inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some neurologic abnormalities have been reported in rare cases with severe loss of enzyme activity ({16:Mudd et al., 2003}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hepatic methionine adenosyltransferase deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hepatic methionine adenosyltransferase deficiency" returned 2 free, full-text research articles on human participants. First 3 results:

Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency.
 

Author(s): W A Gahl, I Bernardini, J D Finkelstein, A Tangerman, J J Martin, H J Blom, K D Mullen, S H Mudd

Journal: J. Clin. Invest.. 1988 Feb;81(2):390-7.

 

We investigated sulfur and methyl group metabolism in a 31-yr-old man with partial hepatic methionine adenosyltransferase (MAT) deficiency. The patient's cultured fibroblasts and erythrocytes had normal MAT activity. Hepatic S-adenosylmethionine (SAM) was slightly decreased. This ...

Last Updated: 18 Mar 1988

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Hepatic methionine adenosyltransferase deficiency in a 31-year-old man.
 

Author(s): W A Gahl, J D Finkelstein, K D Mullen, I Bernardini, J J Martin, P Backlund, K G Ishak, J H Hoofnagle, S H Mudd

Journal: Am. J. Hum. Genet.. 1987 Jan;40(1):39-49.

 

A 31-year-old man with hepatic methionine adenosyltransferase (MAT) deficiency was evaluated for an odd odor to his breath. He had no other symptoms. Plasma methionine was 716 microM (normal, 15-40 microM), and plasma methionine-oxidation products were 460 microM (normal, 0). Hepatic ...

Last Updated: 10 Mar 1987

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Reviews from the PubMed Database

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The terms "Hepatic methionine adenosyltransferase deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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