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This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD): Diagnosis and Treatment, first published in 1990. Within the last 6 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition confirms the ubiquity of biochemical reactions in cellular biological processes, disturbances of which cause the large majority of human genetic disorders, many not classically labelled as metabolic diseases. While previous editions remained largely focused on disorders of intermediary metabolism and organelles, mostly diagnosed with metabolic markers, this edition extends the concept of IMD to include disturbances of molecular machinery, diagnosed by molecular techniques but which currently may not have measurable metabolic markers.