User:Jarle Pahr/Metabolic disorders

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Notes on metabolic disorders and diseases:


http://en.wikipedia.org/wiki/Inborn_error_of_metabolism

Disorder OMIM Ref Gene Enzyme RECON reaction ID Description
Phenylketonuria (PKU) OMIM: 261600 PAH Phenylalanine hydroxylase (E.C. 1.14.16.1) PHETHPTOX2 Loss of ability of conversion of Phenylalaline to tyrosine.
Tay–Sachs disease HEXA Beta-N-acetylhexosaminidase (E.C. 3.2.1.52)
Sandhoff disease HEXA Beta-N-acetylhexosaminidase (E.C. 3.2.1.52)

Other resources:

RECON human metabolic network reconstruction: http://humanmetabolism.org/

Gene reviews: http://www.ncbi.nlm.nih.gov/books/NBK1116/

Databases

OMIM: www.omim.org

http://www.ommbid.com/

Human Metabolome Database: http://www.hmdb.ca/


http://www.ommbid.com//OMMBID/the_online_metabolic_and_molecular_bases_of_inherited_disease/b/abstract/part2/ch3.1

Bibliography

http://www.esp.org/books/garrod/inborn-errors/facsimile/

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): http://thielelab.eu/documents/Papers/2012-Sahoo-A%20compendium%20of%20inborn%20errors%20of%20metabolism%20mapped%20onto%20the%20human%20%20metabolic%20network.pdf

  • 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."

http://pubs.rsc.org/en/content/articlelanding/2012/mb/c2mb25075f

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