Catalog

Dicarboxylic aminoaciduria

No MMS code

Link to WHO Definition

Dicarboxylic aminoaciduria – http://id.who.int/icd/entity/1947265216

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.