X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation.
Creatine transporter deficiency is an X-linked disorder characterized by mental retardation and language delay. The authors report a patient affected by creatine transport deficiency caused by a novel mutation in the SLC6A8 gene. Impairment in social interaction represents a consistent clinical finding in the few cases described to date and may be a diagnostic clue for creatine transporter deficiency in males affected by mental retardation, seizures, and language impairment.
Schiaffino
Maria C
MC
Department of Pediatrics, G. Gaslini Institute, State University of Genoa, Genoa, Italy.
Bellini
Carlo
C
Costabello
Laura
L
Caruso
Ubaldo
U
Jakobs
Cornelis
C
Salomons
Gajja S
GS
Bonioli
Eugenio
E
D004569:Electroencephalography; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000172:deficiency* / Q000235:genetics*; D050480:Plasma Membrane Neurotransmitter Transport Proteins / Q000172:deficiency* / Q000235:genetics*; D025064:Sex Chromosome Disorders / Q000235:genetics*
D009419:Nerve Tissue Proteins; D050480:Plasma Membrane Neurotransmitter Transport Proteins; C094770:SLC6A8 protein, human