Linked Life Data

20602486

Source:http://linkedlifedata.com/resource/pubmed/id/20602486

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2010-7-27
pubmed:abstractText
X-linked cerebral creatine deficiency is caused by the deficiency of the creatine transporter encoded by the SLC6A8 gene. Here, we report two half-brothers with this condition and characterize creatine transport in human fibroblasts. The propositus presented at 6 months of age with delays in development and slow progress since then with no regression. Seizures started at 3.5 years of age and responded well to treatment with anticonvulsants. He had failure to thrive with all growth parameters (including head size) at or below the fifth centile. Brain MRI indicated hemispheric white matter abnormalities, while MR spectroscopy indicated markedly reduced creatine peak. Biochemical testing indicated increased urine creatine/creatinine ratio, with normal plasma creatine and guanidinoacetate. To confirm the diagnosis, we measured ([14])C-creatine transport in fibroblasts. ([14])C-Creatine transport in normal human fibroblasts was linear for up to 2 hr at 37 degrees C. Kinetic studies indicated the presence of a single saturable creatine transporter with a K(m) of 34.7 +/- 2.5 microM. Fibroblasts from the propositus lacked creatine transport. DNA testing indicated hemizygosity for a novel deletion producing a frameshift (c.974_975delCA, p.Thr325SerfsX139) in the creatine transporter gene. His 12-year-old half-brother had similar biochemical and clinical abnormalities except for the presence of macrocephaly and the absence of seizures. The mother had history of seizures in childhood, but had normal development. These results show that human fibroblasts have a single major creatine transporter and that measurement of its specific activity can confirm creatine transporter deficiency.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1552-4833
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
152A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1979-83
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Creatine transporter deficiency in two half-brothers.
pubmed:affiliation
Division of Medical Genetics, ARUP Inst Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah.
pubmed:publicationType
Journal Article, Case Reports