User:Jarle Pahr/Metabolic disorders
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
Human Metabolome Database: http://www.hmdb.ca/
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
