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 find...

Full description

Saved in:
Bibliographic Details
Published in:Neurogenetics 2005-09, Vol.6 (3), p.165-168
Main Authors: SCHIAFFINO, Maria C, BELLINI, Carlo, COSTABELLO, Laura, CARUSO, Ubaldo, JAKOBS, Cornelis, SALOMONS, Gajja S, BONIOLI, Eugenio
Format: Article
Language:English
Subjects:
Adult and adolescent clinical studies
Biological and medical sciences
Electroencephalography
Gene Deletion
General aspects. Genetic counseling
Genes
Humans
Infant
Intellectual deficiency
Magnetic Resonance Imaging
Male
Medical disorders
Medical genetics
Medical sciences
Mutation
Nerve Tissue Proteins - deficiency
Nerve Tissue Proteins - genetics
Plasma Membrane Neurotransmitter Transport Proteins - deficiency
Plasma Membrane Neurotransmitter Transport Proteins - genetics
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
Sex Chromosome Disorders - genetics
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1364-6745
1364-6753
DOI:10.1007/s10048-005-0002-4