Inborn Errors of Metabolism (IEM) Community
This page is set up to give an overview of all Inherited Metabolic Disorders (IMDs, also known as Inborn Errors of Metabolism (IEM). This pathway collection also featured in the latest NAR Database Issue on WikiPathways. IMPORTANT: the current list of pathways is based on the currently published 2022 Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, which is further described in Chapter WikiPathways: Integrating Pathway Knowledge with Clinical Data
Community Pathways
This community helps to curate 34 pathways:
- 7-oxo-C and 7-beta-HC pathways - WP5064 (Homo sapiens)
- Alternative pathway of fetal androgen synthesis - WP4524 (Homo sapiens)
- Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine - WP4156 (Homo sapiens)
- Biotin metabolism, including IMDs - WP5031 (Homo sapiens)
- Cerebral organic acidurias, including diseases - WP4519 (Homo sapiens)
- Classical pathway of steroidogenesis with glucocorticoid and mineralocorticoid metabolism - WP4523 (Homo sapiens)
- Cysteine and methionine catabolism - WP4504 (Homo sapiens)
- Degradation pathway of sphingolipids, including diseases - WP4153 (Homo sapiens)
- Disorders of folate metabolism and transport - WP4259 (Homo sapiens)
- Ethylmalonic encephalopathy - WP5030 (Homo sapiens)
- GABA metabolism (aka GHB) - WP4157 (Homo sapiens)
- Gamma-glutamyl cycle for the biosynthesis and degradation of glutathione, including diseases - WP4518 (Homo sapiens)
- Glycosylation and related congenital defects - WP4521 (Homo sapiens)
- Irinotecan pathway - WP229 (Homo sapiens)
- Krebs cycle disorders - WP4236 (Homo sapiens)
- MTHFR deficiency - WP4288 (Homo sapiens)
- Metabolic pathway of LDL, HDL and TG, including diseases - WP4522 (Homo sapiens)
- Methionine metabolism leading to sulfur amino acids and related disorders - WP4292 (Homo sapiens)
- Molybdenum cofactor (Moco) biosynthesis - WP4507 (Homo sapiens)
- Neurotransmitter disorders - WP4220 (Homo sapiens)
- Oxysterols derived from cholesterol - WP4545 (Homo sapiens)
- Pathways of nucleic acid metabolism and innate immune sensing - WP4705 (Homo sapiens)
- Phosphoinositides metabolism - WP4971 (Homo sapiens)
- Purine metabolism - WP4792 (Homo sapiens)
- Purine metabolism and related disorders - WP4224 (Homo sapiens)
- Pyrimidine metabolism and related diseases - WP4225 (Homo sapiens)
- Riboflavin and CoQ disorders - WP5037 (Homo sapiens)
- Serine metabolism - WP4688 (Homo sapiens)
- Sphingolipid metabolism overview - WP4725 (Homo sapiens)
- Thiamine metabolic pathways - WP4297 (Homo sapiens)
- Tyrosine metabolism and related disorders - WP4506 (Homo sapiens)
- Urea cycle and associated pathways - WP4595 (Homo sapiens)
- Vitamin B12 disorders - WP4271 (Homo sapiens)
- Vitamin B6-dependent and responsive disorders - WP4228 (Homo sapiens)
How to Contribute
If you know of a pathway that should be added, please contact Denise Slenter (denise.slenter[AT]maastrichtuniversity.nl).
Authors of Community Pathways
Denise Slenter , Eric Weitz , Egon Willighagen , Eline Sanders , Irene Hemel , Maintenance bot , Friederike Ehrhart , Finterly Hu , Daniela Digles , Josien Landman , Britt Pieters , Eveline Schoenmaker , Ingebude , Daniel Domingo-Fdez , Andra Waagmeester , Ado , Kristina Hanspers , Jesse Vercoulen , Yasmin Omar , Lobke Meels , Lauren J. Dupuis , Unknown , Thomas Kelder , Alex Pico , Martijn Van Iersel , Richard Delava , Martina Summer-Kutmon , Hermann Ritter , Elisson nl , Ann Friesacher , Conroy lipids , Laurent Winckers , Elisa Santarsiero , Roel Hacking , Amy Kutmon , Youssef Walid , G. Keulen , Agustin Gonzalez-Vicente , Mzolisi Mtshaulana , Lisa Martina Held , Susan Coort , and Marvin Martens .