Dicarboxylic aminoaciduria

General Information (adopted from Orphanet):

Synonyms, Signs: glutamate-aspartate transport defect
Number of Symptoms 6
OrphanetNr: 2195
OMIM Id: 222730
ICD-10: E72.0
UMLs: C1857253
MeSH: C536171
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of amino acid absorption and transport
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0003355) Aminoaciduria 65 / 7739
2
(HPO:0001249) Intellectual disability 1089 / 7739
3
(HPO:0003162) Fasting hypoglycemia 8 / 7739
4
(OMIM) Aspartic aciduria 1 / 7739
5
(OMIM) Glutamic aciduria 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Teijema et al. (1974) described a female child with a defect in renal and probably intestinal transport of 2 acidic amino acids, glutamic and aspartic acids. The child was mentally retarded and also showed moderate hyperprolinemia and hypoglycemia. ...