disease of metabolism inherited metabolic disorder inborn errors of metabolism true inborn errors of metabolism https://www.ncbi.nlm.nih.gov/pubmed/28671587 congenital metabolism disorder congenital metabolic disorder DOID:655 inherited metabolic disorder rare metabolic disease MedDRA:10058097 SCTID:86095007 metabolic hereditary disorder MESH:D008661 rare inherited metabolic disorder Orphanet:68367 hereditary metabolic disease inborn error of metabolism MedDRA:10062018 inborn metabolism disorder MONDO:0019052 NCIT:C34816 A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. The inborn errors of metabolism are typically rare, but this class also encompasses non-rare diseases like hereditary hemochromatosis type 1 rare inborn errors of metabolism UMLS:C0025521