X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
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.
Bizzi
Alberto
A
Department of Neuroradiology, Istituto Nazionale Neurologico C. Besta, Milano, Italy.
Bugiani
Marianna
M
Salomons
Gajja S
GS
Hunneman
Donald H
DH
Moroni
Isabella
I
Estienne
Margherita
M
Danesi
Ugo
U
Jakobs
Cornelis
C
Uziel
Graziella
G
D000284:Administration, Oral; D001921:Brain / Q000378:metabolism; D003401:Creatine / Q000097:blood / Q000172:deficiency* / Q000627:therapeutic use / Q000652:urine; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008661:Metabolism, Inborn Errors / Q000188:drug therapy* / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D013577:Syndrome; D017211:Treatment Failure; D014960:X Chromosome / Q000235:genetics*
D026901:Membrane Transport Proteins; C080679:creatine transporter; D003401:Creatine