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Am J Hum Genet. 2001 Jun;68(6):1497-500. Epub 2001 Apr 20.

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

Author information

1
VU Medical Center, Metabolic Unit, Department of Clinical Chemistry, 1081 HV Amsterdam, The Netherlands.

Abstract

We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter. The male index patient presented with developmental delay and hypotonia. Proton magnetic-resonance spectroscopy of his brain revealed absence of the creatine signal. However, creatine in urine and plasma was increased, and guanidinoacetate levels were normal. In three female relatives of the index patient, mild biochemical abnormalities and learning disabilities were present, to various extents. Fibroblasts from the index patient contained a hemizygous nonsense mutation in the gene SLC6A8 and were defective in creatine uptake. The three female relatives were heterozygous for this mutation in SLC6A8, which has been mapped to Xq28.

PMID:
11326334
PMCID:
PMC1226136
DOI:
10.1086/320595
[Indexed for MEDLINE]
Free PMC Article

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