alexa Abstract | A case of Creatine Transporter Deficiency in a Young Child with Choreoathetosis

Current Pediatric Research
Open Access

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Abstract

We report a case of creatine transporter deficiency in a young boy who has a constellation of symptoms and signs that are similar to what have been reported with the exception of his severe movement disorder. The child had besides developmental motor and cognitive delay very marked choreoathetosis that has been refractory to all treatment. The child presented at an early age with developmental delay and while being investigated he developed involuntary dystonic movements. The child was investigated thoroughly and all other possible causes have been ruled out. The diagnosis was reached through urine creatine:creatinine ratio, decreased creatine uptake in fibroblasts culture, decreased creatine peak on the proton magnetic resonance spectroscopy (MRS) and by molecular DNA testing.

To read the full article Peer-reviewed Article PDF image

Author(s): Mohammad Howidi Howard Parsons

Keywords

Creatine Transporter Defect (CTD), SLC6A8, Magnetic resonance spectroscopy (MRS), Choreoathetosis

 
Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

 
© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
adwords