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.
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Disorders of Phenylalanine and Tetrahydrobiopterin (BH4) Metabolism
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Tyrosine Metabolism
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Sulphur Amino Acids
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Hyperammonemias and related disorders

Organic acids

  • Chapter 7 has been drawn, however is not fully annotated yet.
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Cerebral Organic Acidurias, including diseases
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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"
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Disorders of Folate Metabolism and Transport
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MTHFR deficiency (additional pathway)
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Vitamine B6-Dependent and Responsive Disorders
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Molybdenum (Moco) cofactor biosynthesis
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Cysteine and Methionine catabolism
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Vitamin B12 Disorders
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Biotin Metabolism
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Thiamine Disorders

Energy Metabolism

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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."
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Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses (Sphingolipid degradation)
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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"
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Neurotransmitter Disorders
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Classical pathway of steroidogenesis
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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"
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Purine Disorders
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Pyrimidine Disorders
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Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione
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Metabolic pathway of LDL, HDL and TG, including diseases


Pathways with kinetics data (coming soon)

  • 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"


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