Preferred Label : Dicarboxylic aminoaciduria;
ICD-11 definition : Dicarboxylic aminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia
associated, in certain cases, with intellectual deficit. Less than 10 cases have been
reported to date. Defects in renal and intestinal glutamate and aspartate transport
were also reported, suggesting that anomalies of the EAAC1 transporter, involved in
the transport of these two amino acids, are the underlying cause of this syndrome.;
ICD-11 synonym : Glutamate-aspartate transport defect;
Origin ID : 1947265216;
UMLS CUI : C1857253;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Dicarboxylic aminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia
associated, in certain cases, with intellectual deficit. Less than 10 cases have been
reported to date. Defects in renal and intestinal glutamate and aspartate transport
were also reported, suggesting that anomalies of the EAAC1 transporter, involved in
the transport of these two amino acids, are the underlying cause of this syndrome.
