Diseases in U-IMD

All IMDs, with no exclusion, are of interest to MetabERN. Considering the complexity of more than 800 known IMDs rare IMDs are structured in 7 subnetworks by MetabERN.

The U-IMD registry will cover all IMD subgroups specified by MetabERN.

  • AMINO AND ORGANIC ACIDS-RELATED DISORDERS (AOA)
  • PYRUVATE METABOLISM MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION DISORDERS, KREBS CYCLE DEFECTS, DISORDERS OF THIAMINE TRANSPORT AND METABOLISM (PM-MD)
  • CARBOHYDRATE, FATTY ACID OXIDATION AND KETONE BODIES DISORDERS (C-FAO)
  • LYSOSOMAL STORAGE DISORDERS (LSD)
  • PEROXISOMAL DISORDERS (PD)
  • CONGENITAL DISORDERS OF GLYCOSYLATION AND DISORDERS OF INTRACELLULAR TRAFFICKING (CDG)
  • DISORDERS OF NEUROMODULATORS AND OTHER SMALL MOLECULES including porphyrias (NOMPS)