X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
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Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G
X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
Ann Neurol. 2002 Aug;52(2):227-31.
- PubMed ID
- 12210795 [ View in PubMed]
- Abstract
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.