Methionine Adenosyltransferase I/III Deficiency |
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Prevalence (%) of clinical parameters based on data from 2 references describing 88 individuals
Add new symptom/sign to this disease
| 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%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
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-Bürgi, 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