Orphanet: Dicarboxylic aminoaciduria

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Dicarboxylic aminoaciduria

Disease definition

Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.


Classification level: Disorder
  • Synonym(s):
    • Glutamate-aspartate transport defect
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: E72.0
  • OMIM: 222730
  • UMLS: C1857253
  • MeSH: C536171
  • GARD: 1855
  • MedDRA: -
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