ORPHA:2195
Dicarboxylic aminoaciduria
Also called Glutamate-aspartate transport defect
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- Unknown (Specific population)
- Rarity class
- Unknown
ORPHA:2195 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Aspartic aciduria
- Increased urine glutamate level
- Nephrolithiasis
- Intellectual disability
- Obsessive-compulsive trait
- Schizophrenia