- Glutamate-aspartate transport defect
Your QuestionIs it possible to reach late adolescence with undiagnosed dicarboxylic aminoaciduria? Should childhood onset OCD with worsening symptoms in adolescence prompt testing?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is dicarboxylic aminoaciduria?
- What are the signs and symptoms of dicarboxylic aminoaciduria?
- Is it possible to reach late adolescence with undiagnosed dicarboxylic aminoaciduria?
- With whom can I discuss my concerns regarding a possible diagnosis of dicarboxylic aminoaciduria?
- How can I learn more about the genetics of obsessive compulsive disorder?
You may wish to discuss your concerns with a genetics professional. Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference at http://ghr.nlm.nih.gov/handbook/consult. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
The National Institute of Mental Health (NIMH) has a clinical trial entitled "Genetics of Obsessive-Compulsive Disorder" which may be of interst to you. Further information about this study can be accessed through ClinicalTrials.gov, a database developed by the U.S. National Institutes of Health, through the National Library of Medicine to provide patients, family members, and members of the public with current information on clinical research studies.
- Camargo SM, Bockenhauer D, Kleta R. Aminoacidurias: Clinical and molecular aspects. Kidney Int. 2008 Apr;73(8):918-25.; http://www.ncbi.nlm.nih.gov/pubmed/18200002. Accessed 10/21/2011.
- Bailey CG et al.,. Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. J Clin Invest. 2011 Jan 4;121(1):446-53; http://www.ncbi.nlm.nih.gov/pubmed/21123949. Accessed 10/21/2011.
- Dicarboxylicamino aciduria. Online Mendelian Inheritance in Man. 2005; http://omim.org/entry/222730. Accessed 10/24/2011.