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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency
Neuromuscular Disorders, Volume 23, No. 8, Year 2013
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Description
We report two sisters, aged 11 and 6. years, with AGAT deficiency syndrome (OMIM 612718) which is the least common creatine deficiency syndrome. They were born full-term to consanguineous parents and had moderate developmental delay. Examination showed an important language delay, a progressive proximal muscular weakness in the lower limbs with Gowers sign and myopathic electromyography. Investigations revealed undetectable guanidinoacetate and low level of creatine in plasma and urine, characteristic findings of AGAT deficiency syndrome. Brain magnetic resonance spectroscopy showed a markedly reduced level of creatine. Guanidinoacetate methyltransferase (GATM) gene sequencing revealed a homozygous missense mutation in exon 4:c.608A>C, (p.Tyr203Ser). Thirteen months after beginning the treatment with oral creatine monohydrate 200. mg/kg/day, then 400. mg/kg/day, there was a dramatic improvement in muscle strength with Gowers sign disappearance in both patients, and a mild improvement in language and cognitive functions. AGAT deficiency syndrome should be considered in all patients with language retardation and cognitive impairment associated to a myopathy of unknown etiology such that early diagnosis must lead to creatine supplementation to cure the myopathy and improve language and cognitive function. © 2013 Elsevier B.V.
Authors & Co-Authors
Nouioua, Sonia
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Cheillan, David
France, Lyon
Chu de Lyon
France, Villeurbanne
Université Claude Bernard Lyon 1
Zaouidi, S.
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Salomons, Gajja S.
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
Amedjout, N.
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Kessaci, Farid
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Boulahdour, N.
Algeria, Algiers
Polyclinique Bouchenafa
Hamadouche, Tarik
Algeria, Boumerdes
Université de Boumerdes
Tazir, Mériem
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Statistics
Citations: 9
Authors: 9
Affiliations: 6
Identifiers
Doi:
10.1016/j.nmd.2013.04.011
ISSN:
09608966
e-ISSN:
18732364
Research Areas
Cancer
Genetics And Genomics
Health System And Policy