Methionine Adenosyltransferase I/III Deficiency
MAT Deficiency

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Prevalence (%) of clinical parameters based on data from 2 references describing 88 individuals







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Increased plasma methionine circulatory 100 % 26289392 2019-08-08
Demyelination nervous 13 % 24231718 2019-08-08



List of references:


Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Yin-Hsiu Chien, Jose E Abdenur, Federico Baronio, Allison Anne Bannick, Fernando Corrales, Maria Couce, Markus G Donner, Can Ficicioglu, Cynthia Freehauf, Deborah Frithiof, Garrett Gotway, Koichi Hirabayashi, Floris Hofstede, George Hoganson, Wuh-Liang Hwu, Philip James, Sook Kim, Stanley H Korman, Robin Lachmann, Harvey Levy, Martin Lindner, Lilia Lykopoulou, Ertan Mayatepek, Ania Muntau, Yoshiyuki Okano, Kimiyo Raymond, Estela Rubio-Gozalbo, Sabine Scholl-B├╝rgi, Andreas Schulze, Rani Singh, Sally Stabler, Mary Stuy, Janet Thomas, Conrad Wagner, William G Wilson, Saskia Wortmann, Shigenori Yamamoto, Maryland Pao, Henk J Blom,



Orphanet journal of rare diseases - Aug 2015



Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan.
Masayoshi Nagao, Toju Tanaka, Mahoko Furujo,



Molecular genetics and metabolism - Dec 2013