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Description

Familial hypercholesterolaemia (FH) Familial hypercholesterolaemia (FH) is a group of inherited genetic defects leading to increased concentrations of low-density lipoprotein (LDL-C) and, secondarily, total cholesterol (TC), with elevated LDL-C being one of the main diagnostic criteria [155]

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[Abstract] All Endogenous Metabolite Isoforms More Biological Activity [1] [2] [3]

In PA, the impaired conversion of propionyl-CoA to methylmalonyl-CoA leads not only to intracellular accumulation of propionyl-CoA but also to metabolites such as 3-OH-isopropionate, glycine, propionylglycine, propionylcarnitine, fatty acids, propionic acid, and 2-methylcitrate