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X‐linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8
Author(s) -
Bizzi Alberto,
Bugiani Marianna,
Salomons Gajja S.,
Hunneman Donald H.,
Moroni Isabella,
Estienne Margherita,
Danesi Ugo,
Jakobs Cornelis,
Uziel Graziella
Publication year - 2002
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10246
Subject(s) - creatine , medicine , endocrinology , omim : online mendelian inheritance in man , mutation , mendelian inheritance , gene , biology , genetics , phenotype
Among creatine deficiency syndromes, an X‐linked condition related to a defective creatine transport into the central nervous system has been described recently. Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffectiveness of oral supplementation, and a mutation in the SLC6A8 (Online Mendelian Inheritance in Man [OMIM] 300036) creatine transporter gene. We report on a patient in whom a novel mutation (1221‐1223delTTC) was identified.