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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 encompasses many metabolic disorders which are identifiable through…
This rapidly expanding group of now more than 60 conditions…
This group includes disorders of mitochondrial shuttles and carriers, disorders…
This group comprises a small number of diseases that are…
This group includes disorders of glyoxylate and oxalate metabolism, which…
This small group of disorders comprises deficiencies of enzymes which…
Disorders affecting carbohydrate metabolism represent a diverse group of conditions…
This group of conditions includes disorders of mitochondrial fatty acid…
This group of disorders combines disorders of pyruvate metabolism, disorders…
Mitochondrial disorders were first genetically characterized by identifying deletions and…
This group of disorders includes deficiencies of subunits and assembly…
This group includes disorders affecting the biosynthesis of the following…
This category comprises diseases affecting both proteins needed for mitochondrial…
Subnetworks
AOA
Aminoacid and organic acids related disorders
