We will be undergoing a brief scheduled maintenance at Monday Jan 22 at 10AM EST - you may experience some outages

We will be undergoing a scheduled maintenance at Monday Jan 22 at 10AM EST

Diseases of metabolism

Stable Identifier
Homo sapiens
Locations in the PathwayBrowser

Metabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as the inactivation and elimination of toxic ones generated endogenously or present in the extracellular environment. Mutations that disrupt these processes by inactivating a required enzyme or regulatory protein, or more rarely by changing its specificity can lead to severe diseases. Ones annotated here involve aspects of carbohydrate, amino acid, and vitamin metabolism, and biological oxidations. One somatic mutation that affects cytosolic isocitrate metabolism, often found in glioblastomas and some lymphoid neoplasms, is also annotated.

Participant Of
Name Identifier Synonyms
disease of metabolism 0014667 metabolic disease