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Dicarboxylic aminoaciduria

ORPHA2195
Synonym(s) Glutamate-aspartate transport defect
Prevalence -
Inheritance -
Age of onset Infancy
Neonatal
ICD-10
  • E72.0
OMIM
UMLS
  • C1857253
MeSH
  • C536171
MedDRA -

Summary

Dicarboxylicaminoaciduria 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.


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