National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Dicarboxylic aminoaciduria

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Is it possible to reach late adolescence with undiagnosed dicarboxylic aminoaciduria? Should childhood onset OCD with worsening symptoms in adolescence prompt testing? 

The following information may help to address your question:


What is dicarboxylic aminoaciduria?

Dicarboxylic aminoaciduria is a rare metabolic disorder characterized by the excessive loss of aspartate and glutamate in urine. Symptoms have varied greatly among the few reported cases.[1][2] Dicarboxylic aminoaciduria is caused by mutations in the SLC1A1 gene. It is inherited in an autosomal recessive fashion.[2]
Last updated: 10/25/2011

What are the signs and symptoms of dicarboxylic aminoaciduria?

There are no common signs or symptoms of dicarboxylic aminoaciduria. Hypoglycemia, developmental and neurological abnormalities, and obsessive compulsive tendencies were described in individual cases.[3][2] Others that have been diagnosed had virtually no signs or symptoms.[2]
Last updated: 10/24/2011

Is it possible to reach late adolescence with undiagnosed dicarboxylic aminoaciduria?

Currently, there is no wide screening done for dicarboxylic aminoaciduria, and there are few clinical symptoms that would prompt a clinician to consider a diagnosis of this rare disorder. As a result, it is possible that children as well as adults could have dicarboxylic aminoaciduria without knowing it. Since the actual prevalence of the disorder is not known, it is difficult to calculate the likelihood that any one individual might have it. 
Last updated: 10/25/2011

With whom can I discuss my concerns regarding a possible diagnosis of dicarboxylic aminoaciduria?

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:  

Last updated: 10/25/2011

How can I learn more about the genetics of obsessive compulsive disorder?

The International OCD Foundation provides information on the cause of obsessive compulsive disorder at the following link. 
http://www.ocfoundation.org/causes.aspx

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.
http://clinicaltrials.gov/ct2/show/NCT00001548?term=obsessive+compulsive+disorder+genetic&rank=3

Johns Hopkins Medicine has a medical research program entitled, "Obsessive-Compulsive Disorder (OCD) Program" that is investigating genetic factors which may increase a person's susceptibility to OCD. You can learn more about this program at the following link:
http://www.hopkinsmedicine.org/psychiatry/specialty_areas/obsessive_compulsive_disorder/index.html
Last updated: 10/25/2011

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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  1. 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.
  2. 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.
  3. Dicarboxylicamino aciduria. Online Mendelian Inheritance in Man. 2005; http://omim.org/entry/222730. Accessed 10/24/2011.