Dicarboxylic Aminoaciduria
Description
Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.
Clinical Features
Phenotypes and symptoms related to Dicarboxylic Aminoaciduria
- Intellectual disability
- Hypoglycemia
- Nephrolithiasis
- Aminoaciduria
- Obsessive-compulsive behavior
- Fasting hypoglycemia
- Generalized aminoaciduria
- Hyperprolinemia
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Dicarboxylic Aminoaciduria Is also known as glutamate-aspartate transport defect.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Dicarboxylic Aminoaciduria Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 SLC1A1.
By Fulgent Genetics Fulgent Genetics (United States).
SLC1A1
Specificity
100 %
Genes
100 % |
You can get up to -7 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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