Methionine adenosyltransferase I/III deficiency

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Synonyms: MAT I/III deficiency | Mudd's disease

A rare inborn error of metabolism characterized by persistently elevated serum methionine levels. Individuals with mean levels of less than 800 μM are usually clinically normal while those with higher means show evidence of central nervous system abnormalities most notably hypo- or demyelination on brain MRI as well as developmental delay and intellectual disability. Bad breath or a strong smell of urine and sweat may be noted in some patients.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Methionine adenosyltransferase I/III deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.