Guanidinoacetate methyltransferase deficiency |
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Prevalence (%) of clinical parameters based on data from 1 references describing 22 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 blood guanidinoacetate | circulatory | 100 % | 29506905 | 2020-11-26 | |
| Seizures | nervous | 82 % | 29506905 | 2020-11-26 | |
| Developmental delay | nervous | 77 % | 29506905 | 2020-11-26 | |
| Hypotonia | nervous | 23 % | 29506905 | 2020-11-26 | |
| Ataxia | nervous | 18 % | 29506905 | 2020-11-26 | |
| Globus pallidum lesions | nervous | 16 % | 29506905 | 2020-11-26 | |
| Dystonia | nervous | 14 % | 29506905 | 2020-11-26 | |
| Chorea | nervous | 14 % | 29506905 | 2020-11-26 |
List of references:
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.
Yannay Khaikin, Sarah Sidky, Jose Abdenur, Arnaud Anastasi, Diana Ballhausen, Sabrina Buoni, Alicia Chan, David Cheillan, Nathalie Dorison, Alice Goldenberg, Jennifer Goldstein, Floris C Hofstede, Marie-Line Jacquemont, Dwight D Koeberl, Laurence Lion-Francois, Allan Meldgaard Lund, Karine Mention, Helen Mundy, Declan O'Rourke, Gaele Pitelet, Miquel Raspall-Chaure, Maria Tassini, Thierry Billette de Villemeur, Monique Williams, Gajja S Salomons, Saadet Mercimek-Andrews,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - May 2018