Portal:IEM/FeaturedPathways

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Note: these pathways are named after version 4 of the book, and might deviate (significantly) from version 5 names. For an overview, please see the Covered Pathways section on the main portal page.

Contents

Amino acids

  • Chapter 5 and 6 have been drawn, however are not fully annotated yet.
Disorders of Phenylalanine and Tetrahydrobiopterin (BH4) Metabolism
Tyrosine Metabolism
Sulphur Amino Acids
Hyperammonemias and related disorders

Organic acids

  • Chapter 7 has been drawn, however is not fully annotated yet.
Cerebral Organic Acidurias, including diseases
Ethylmalonic Encephalopathy

Vitamins, Cofactors and Metals

  • Pathway:WP4259 - Chapter 10 "Disorders of Folate Metabolism and Transport"
  • Pathway:WP4288 - Chapter 10 "MTHFR deficiency (additional pathway)"
  • Pathway:WP4228 - Chapter 11 "Vitamine B6-Dependent and Responsive Disorders"
  • Pathway:WP4507 - Chapter 12 "Molybdenum (Moco) cofactor biosynthesis"
  • Pathway:WP4504 - Chapter 12 "Cysteine and Methionine catabolism"
Disorders of Folate Metabolism and Transport
MTHFR deficiency (additional pathway)
Vitamine B6-Dependent and Responsive Disorders
Molybdenum (Moco) cofactor biosynthesis
Cysteine and Methionine catabolism
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Vitamin B12 Disorders
Biotin Metabolism
Thiamine Disorders

Energy Metabolism

Disorders of the Krebs Cycle

Organelles

  • Pathway:WP4153 - Chapter 25 "Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses (Sphingolipid degradation)"
  • Pathway:WP4521 - Chapter 30 "Glycosylation and related congenital defects."
Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses (Sphingolipid degradation)
Glycosylation and related congenital defects

Selected Disorders

  • Pathway:WP4220 - Chapter 31 "Neurotransmitter Disorders"
  • Pathway:WP4523 - Chapter 37 "Classical pathway of steroidogenesis, including diseases"
  • Pathway:WP4524 - Chapter 37 "The alternative pathway of fetal androgen synthesis, including diseases"
Neurotransmitter Disorders
Classical pathway of steroidogenesis
The alternative pathway of fetal androgen synthesis
  • Pathway:WP4224 - Chapter 41 "Purine Disorders"
  • Pathway:WP4225 - Chapter 41 "Pyrimidine Disorders"
  • Pathway:WP4518 - Chapter 42 "Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases"
  • Pathway:WP4522 - Chapter 43 "Metabolic pathway of LDL, HDL and TG, including diseases"
Purine Disorders
Pyrimidine Disorders
Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione
Metabolic pathway of LDL, HDL and TG, including diseases


Pathways with kinetics data (under development)

  • Pathway:WP4519 - Chapter 8 "Cerebral Organic Acidurias, including diseases"
  • Pathway:WP4521 - Chapter 30 "Glycosylation and related congenital defects."
  • Pathway:WP4523 - Chapter 37 "Classical pathway of steroidogenesis, including diseases"
  • Pathway:WP4524 - Chapter 37 "The alternative pathway of fetal androgen synthesis, including diseases"
  • Pathway:WP4518 - Chapter 42 "Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases"


Cerebral Organic Acidurias, including diseases
Glycosylation and related congenital defects.
Classical pathway of steroidogenesis, including diseases
The alternative pathway of fetal androgen synthesis, including diseases
Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases
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