User:Jarle Pahr/Metabolic disorders

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Notes on metabolic disorders and diseases:

Disorder OMIM Ref Gene Enzyme RECON reaction ID Description
Phenylketonuria (PKU) OMIM: 261600 PAH Phenylalanine hydroxylase (E.C. PHETHPTOX2 Loss of ability of conversion of Phenylalaline to tyrosine.
Tay–Sachs disease HEXA Beta-N-acetylhexosaminidase (E.C.
Sandhoff disease HEXA Beta-N-acetylhexosaminidase (E.C.

Other resources:

RECON human metabolic network reconstruction:

Gene reviews:



Human Metabolome Database:


Sahoo, S., Franzson, L., Jonsson, J.J., Thiele, I.*, "A compendium of inborn errors of metabolism mapped onto the human metabolic network.", Mol BioSyst, 8 (10), 2545 - 2558 (2012):

  • 235 Inborn Errors of Metabolism (IEMs) mapped unto RECON1 model of human metabolism. Of these, 163 autosomal recessive and 11 autosomal dominant.
  • Identified 139 uncharted IEMs which could not be mapped unto RECON1. "The uncharted

metabolic IEMs will be a good starting point for further exten- sion and refinement of the human metabolic reconstruction."