Guanidinoacetate methyltransferase deficiency
GAMT Deficiency

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Prevalence (%) of clinical parameters based on data from 1 references describing 22 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 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