Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Dicarboxylic aminoaciduria


Other Names for this Disease

  • Dicarboxylicaminoaciduria
  • Glutamate-aspartate transport defect
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

Newline Maker

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.[1][2] Others that have been diagnosed had virtually no signs or symptoms.[2]
Last updated: 10/24/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Dicarboxylic aminoaciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Aminoaciduria -
Autosomal recessive inheritance -
Fasting hypoglycemia -
Intellectual disability -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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


Other Names for this Disease
  • Dicarboxylicaminoaciduria
  • Glutamate-aspartate transport defect
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.