Title |
Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency
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Published in |
Orphanet Journal of Rare Diseases, June 2012
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DOI | 10.1186/1750-1172-7-43 |
Pubmed ID | |
Authors |
Annamaria Chilosi, Manuela Casarano, Alessandro Comparini, Francesca Maria Battaglia, Margherita Maria Mancardi, Cristina Schiaffino, Michela Tosetti, Vincenzo Leuzzi, Roberta Battini, Giovanni Cioni |
Abstract |
SLC6A8, an X-linked gene, encodes the creatine transporter (CRTR) and its mutations lead to cerebral creatine (Cr) deficiency which results in mental retardation, speech and language delay, autistic-like behaviour and epilepsy (CRTR-D, OMIM 300352). CRTR-D represents the most frequent Cr metabolism disorder but, differently from Cr synthesis defects, that are partially reversible by oral Cr supplementation, does not respond to Cr treatment even if precociously administrated. The precursors of Cr are the non-essential amino acids Glycine (Gly) and Arginine (Arg), which have their own transporters at the brain-blood barrier level and, therefore, their supplementation appears an attractive and feasible therapeutic option aimed at stimulating Cr endogenous synthesis and, in this way, at overcoming the block of Cr transport within the brain. However, until now the effects of Arg and/or Gly supplementation on Cr brain levels and behaviour have been controversial. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Practitioners (doctors, other healthcare professionals) | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United States | 1 | 1% |
Unknown | 81 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Master | 11 | 13% |
Student > Bachelor | 10 | 12% |
Student > Ph. D. Student | 9 | 11% |
Researcher | 7 | 9% |
Student > Doctoral Student | 4 | 5% |
Other | 17 | 21% |
Unknown | 24 | 29% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 23 | 28% |
Psychology | 9 | 11% |
Nursing and Health Professions | 4 | 5% |
Neuroscience | 4 | 5% |
Agricultural and Biological Sciences | 4 | 5% |
Other | 12 | 15% |
Unknown | 26 | 32% |