Linked Life Data

12701808

Source:http://linkedlifedata.com/resource/pubmed/id/12701808

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
2003-4-18
pubmed:abstractText
To describe the clinical, spectroscopic and neuropsychological features of the first family diagnosed with a defect in the creatine transporter. Proton Magnetic Resonance Spectroscopy (MRS) indicated an absence of creatine and phosphocreatine in the brain of a male patient characterized by developmental delay, mild epilepsy and severe expressive language impairment. Subsequent genetic testing revealed a defect in the X-linked creatine transporter (SLC6A8/CT1), with a hemizygous mutation in the patient and a heterozygous mutation for the female carriers. Magnetic resonance imaging and spectroscopy examinations were performed on a 1.5T clinical MR Scanner. Neuropsychological examinations were performed on the index patient and maternal relatives. Preliminary spectroscopy results indicate the disorder prevents transport of creatine and phosphocreatine in the brain of the affected male. However, the skeletal muscle demonstrates the presence of creatine and phosphocreatine which correlates clinically with normal structure and function. Female carriers demonstrated impairments in confrontational naming and verbal memory assessments. This new neurological syndrome is associated with developmental delay, mild epilepsy, severe language impairment. MR Spectroscopy is a non-invasive method for obtaining a preliminary diagnosis of this disorder. Muscle creatine uptake may be normal in this disorder.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0300-8177
pubmed:author
pubmed:issnType
Print
pubmed:volume
244
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
45-8
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
The clinical syndrome of creatine transporter deficiency.
pubmed:affiliation
Division of Neurology, Childrens Hospital Medical Center, Cincinnati, OH 45229, USA. t.degrauw@chmcc.org
pubmed:publicationType
Journal Article, Case Reports