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Disorders of intermediary metabolism

Intermediary metabolism is defined as the full set of reactions that transform nutritive materials into energy storage compounds, reducing equivalents and biosynthetic intermediates. Disorders of intermediary metabolites involve pathways that mediate the breakdown of low-molecular weight nutrient compounds (such as proteins, carbohydrates, and lipids) or convert them into substrates for the biosynthesis of complex molecules. Intermediary metabolism disorders might also comprise diseases of mitochondrial oxidative phosphorylation, including disorders affecting mitochondrial DNA maintenance and gene expression, import, dynamics and cofactor biosynthesis.

This group of rare inherited metabolic disorders is identifiable through…
This section covers rare inherited disorders of peptide and amine…
This section covers rare inherited disorders of carbohydrate metabolism, a…
This section covers rare inherited disorders of fatty acid and…
This section covers rare inherited disorders of energy substrate metabolism,…
This section covers rare disorders caused by deletions and point…
This section covers rare inherited disorders caused by nuclear-gene defects…
This section groups rare inherited disorders affecting the biosynthesis of…
This section groups rare inherited disorders affecting nucleotide pool maintenance…
This section covers more than 60 rare inherited disorders of…
This section covers rare inherited other disorders of mitochondrial function,…
This section covers rare inherited disorders of metabolite repair and…
This section covers rare inherited miscellaneous disorders of intermediary metabolism,…

Subnetworks

AOA 1

AOA

Aminoacid and organic acids related disorders

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