Communities

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

Curation Table

Chapter ed. 5 Title Links WP Chapter ed. 4 Status Diseases: x from ch. ed. 4 (+y) from other ch.
13 Disorders of pyrimidine and purine metabolism WP4225 and WP4224 41 Approved (ed.5)
14 Disorders of Nucleotide Metabolism
15 Creatine disorders WP5190 32 Approved
16 Disorders of glutathione metabolism WP4518 42 Approved
17 Disorders of ammonia detoxification WP4595 4 Approved
18 Disorders of amino acid transport WP5029 6 Approved
19 Disorders of monoamine metabolism WP4220 31 Approved (ed.5) 6, non missing
20 Disorders of phenylalanine and tetrahydrobiopterin metabolism WP4156 1 Approved (ed.5) 8 (+2), non missing
21 Disorders of tyrosine metabolism WP4506 2 Approved (ed.5) 5, non missing
22 Disorders of sulfur amino acid and sulfide metabolism WP4292 3 Approved 7, non missing
23 Disorders of branched-chain amino acid metabolism WP4686 7 Approved
24 Disorders of Beta and Gamma Amino Acids Fig.24.2: WP4157 5 (Fig.5.3) Approved (ed.5) 2, non missing
26 Disorders of glycine metabolism Fig.5.1:WP5028, Fig.5.4: WP5026 5 Approved
26 Disorders of glycine metabolism Fig.5.2: WP4688 5 Approved
27 Disorders of Lipoic Acid and Iron-Sulphur Protein Metabolism
28 Disorders of cobalamin metabolism WP4271 13 Approved
29 Disorders of folate metabolism WP4259 and WP4288 10 Approved 9 (+3), non missing
30 Disorders of biotin metabolism WP5031 14 Approved
31 Disorders of thiamine metabolism WP4297 15 Approved
32 Disorders of riboflavin metabolism WP5037 16 Approved
33 Disorders of Niacin, NAD, and Pantothenate Metabolism
34 Vitamin B6 -Dependent and Responsive Disorders WP4228 11 Approved (ed.5) 5, non missing
35 Disorders of molybdenum metabolism WP4507 and WP4504 12 Approved
36 Disorders of copper , zinc and selenium metabolism WP5189 39 Approved
37 Iron metabolism disorder WP5172 40 Approved
38 Disorders of Manganese Metabolism
39 Disorders of carbohydrate and glucose transport Fig.18.3:WP5173, Fig.18.4: WP5178 18 Approved
40 Disorders of Pentose Phosphate Pathway and Polyol Metabolism
41 Disorders Congenital Hyperinsulinism
42 Disorders of pyruvate and Krebs cycle metabolism WP4236 20 Approved
43 Disorders of Mitochondrial Carriers
44 Isolated Mitochondrial Complex Deficiencies
45 Disorders of Replication, Transcription and Translation of Mitochondrial DNA
46 Disorders of Mitochondrial Homeostatis, Dynamics, Protein Import, and Quality Control WP5504
47 Primary CoQ10 deficiencies WP5037 16 Approved
48 Disorders of carnitine, fatty acid and fatty aldehyde metabolism WP5123 17 In Progress
49 Disorders of Glycerol Metabolism
50 Disorders of ketone body metabolism Fig.23.1 and 23.2:WP5175, Fig.23.3: WP5195 23 Approved
51 Disorders of Complex Lipids
52 Disorders of eicosanoid metabolism (including leukotrienes) WP5171 38 Approved
53 Disorders of lipoprotein metabolism WP4522 43 Approved
54 Cholesterol synthesis disorders WP5193 36 Approved
55 Disorders of steroid metabolism WP4523 and WP4524 37 Approved
56 Disorders of Bile acid synthesis (and biliary transport) WP5176 34 Approved
57 Disorders of Heme metabolism WP5169 33 Approved
58 Inherited Disorders of Bilirubin Metabolite
59 Disorders of Autophagy
60 Lysosomal storage disorders WP4153 25 Approved (ed.5) 8, 8 unconnected
61 The Neuronal Ceroid Lipofuscinoses no pathway diagram
62 Mucolipidoses, Multiple Sulfatase Deficiency, and Cathepsin K and C Deficiency
63 Oligosaccharidoses and Sialic Acid Disorders
64 The Mucopolysaccharidoses
65 Disorders of oxalate metabolism WP5166 28 Approved
66 Congenital disorders of N-linked and O-linked glycosylation WP4521 30 Approved
67 Disorders of Oxalate Metabolism
68 Congenital Disorders of Glycosylation
69 Cerebral organic acidurias WP4519 and WP5030 8 & 9 Approved
70 3-Methylglutaconic Acidurias
- Disorders of phosphoinositide metabolism WP4971 NA Approved
- Oxysterols derived from cholesterol WP4545 NA Approved
- Mitochondrial oxidative phosphorylation 22 In Progress

Contact

Denise Slenter .

Community Pathways

Table Filters
This community helps to curate 52 pathways:


How to Contribute

If you know of a pathway that should be added, please contact Denise Slenter (denise.slenter[AT]maastrichtuniversity.nl).

Community Members

Denise Slenter .

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 .