This book is intended for undergraduate biomedical and medical students, as well as residents and clinicians training in specialities related to biochemical genetics, including pathology, pediatrics, and medical genetics. Using real-world cases of inherited metabolic diseases (IMDs), it teaches fundamental concepts in biochemistry and genetics within a clinically relevant context. Each chapter presents a patient case resembling a clinical case record, followed by the associated biochemical findings, pathological features, and underlying metabolic mechanisms.

To enhance student engagement and facilitate deeper learning, the book adopts a case-based learning (CBL) approach that integrates clinical practice with core biochemical and genetic principles. Through the analysis of patient cases, readers develop a practical understanding of disease pathophysiology while strengthening their clinical reasoning and problem-solving skills. The book also incorporates integrated educational methods and chapter-end self-assessment questions to reinforce key concepts and support knowledge retention.

Professor Nelson L. S. Tang is Professor in the Department of Chemical Pathology of the Faculty of Medicine at The Chinese University of Hong Kong. He established Hong Kong's first metabolic clinic for patients with inherited metabolic diseases and has made significant contributions to the molecular diagnosis of rare genetic disorders, those discoveries helping diagnose and treat more than 1,000 patients across Mainland China and Asia. Professor Tang has served on the Advisory Committee of Genetic Pathology of the Royal College of Pathologists of Australasia (RCPA), as editor of the RCPA Catalogue of Genetic Tests and Laboratories and Pathology Manual, and as an examiner for the RCPA Fellowship examinations. He is a member of the Grant Review Board of the Health and Medical Research Fund of the Hong Kong SAR Government and regularly reviews grant applications for funding agencies in Hong Kong, Mainland China, the United Kingdom, Singapore, South Africa, and other countries. Professor Tang has supervised more than 20 master's and doctoral students and actively serves as a reviewer for international scientific journals.

Dr. Joannie Hui is a Specialist in Paediatrics and former Consultant Paediatrician at the Hong Kong Children’s Hospital before retirement. She co-founded the first metabolic clinic in Prince of Wales Hospital, Hong Kong.  She served as a trainer in the subspecialty of Metabolic disease in the Hong Kong College of Paediatricians and various expert committees related to IMDs.