Inherited Metabolic Disorders (IMD) 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
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Community Pathways
Table FiltersThis community helps to curate 51 pathways:
- 7-oxo-C and 7-beta-HC pathways - WP5064 (Homo sapiens)
- Alternative pathway of fetal androgen synthesis - WP4524 (Homo sapiens)
- Amino acid transport defects (IEMs) - WP5029 (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)
- Cholesterol synthesis disorders - WP5193 (Homo sapiens)
- Classical pathway of steroidogenesis with glucocorticoid and mineralocorticoid metabolism - WP4523 (Homo sapiens)
- Copper metabolism - WP5189 (Homo sapiens)
- Creatine pathway - WP5190 (Homo sapiens)
- Cysteine and methionine catabolism - WP4504 (Homo sapiens)
- Degradation pathway of sphingolipids, including diseases - WP4153 (Homo sapiens)
- Disorders in ketolysis - WP5195 (Homo sapiens)
- Disorders in ketone body synthesis - WP5175 (Homo sapiens)
- Disorders of bile acid synthesis and biliary transport - WP5176 (Homo sapiens)
- Disorders of folate metabolism and transport - WP4259 (Homo sapiens)
- Disorders of fructose metabolism - WP5178 (Homo sapiens)
- Disorders of galactose metabolism - WP5173 (Homo sapiens)
- Ether lipid biosynthesis - WP5275 (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)
- Glycine metabolism, including IMDs - WP5028 (Homo sapiens)
- Glycosylation and related congenital defects - WP4521 (Homo sapiens)
- Glyoxylate metabolism - WP5166 (Homo sapiens)
- Hemesynthesis defects and porphyrias - WP5169 (Homo sapiens)
- Iron metabolism disorders - WP5172 (Homo sapiens)
- Krebs cycle disorders - WP4236 (Homo sapiens)
- Leucine, isoleucine and valine metabolism - WP4686 (Homo sapiens)
- Leukotriene metabolic pathway - WP5171 (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)
- Mitochondrial fatty acid oxidation disorders - WP5123 (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)
- Proline and hydroxyproline pathways - WP5026 (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).
Community Members
Authors of Community Pathways
Denise Slenter , Eric Weitz , Egon Willighagen , Conroy lipids , Aishwarya Iyer , Alex Pico , Eline Sanders , Irene Hemel , Friederike Ehrhart , Finterly Hu , Daniela Digles , Josien Landman , Britt Pieters , Eveline Schoenmaker , Eveline Peterse , Ingebude , Leo Kalapurackal , Andra Waagmeester , Kristina Hanspers , Tim Zotti , Daniel Domingo-Fdez , Ado , Martina Summer-Kutmon , Sam Drabbe , Amaury Pelzer , Lars Willighagen , Maria van de Meent , Jesse Vercoulen , Enzo Chiaradia , Alexandra Bosch , Robert C. Murphy , Yasmin Omar , Lobke Meels , Lauren J. Dupuis , Emilia Agasi , Julia Johnsson , Richard Delava , Amy Kutmon , Peter Swanenberg , Hermann Ritter , Elisson nl , Ann Friesacher , Robert Andrews , William J Griffiths , Laurent Winckers , Elisa Santarsiero , Roel Hacking , Youssef Walid , G. Keulen , Agustin Gonzalez-Vicente , Mzolisi Mtshaulana , Lisa Martina Held , Susan Coort , and Marvin Martens .