Inherited Metabolic Diseases

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This book emphasizes clinical presentations linked to inherited metabolic diseases, offering a symptom- and system-based approach to assist clinicians across all specialties in achieving accurate diagnoses and optimal treatment plans. It summarizes key elements of inherited metabolic disorders and provides a clear guide for conducting thorough diagnostic work-ups, leading clinicians from initial symptoms to effective management. After introducing various disorders, it outlines when to suspect an inborn metabolic error and which initial tests to prioritize. The text covers essential topics such as structured communication, guidelines, transition, pregnancy, maternal care, and responses to medical emergencies. It details therapeutic concepts, including dietary treatments, and offers practical advice tailored to the diverse treatment needs of specific diseases. An extensive section organized by organ systems presents the appropriate approach for specific symptoms and signs. The book explains the value of potential investigations and provides precise guidance on interpreting results. With algorithms, tables, lists, and charts for quick decision-making, the appendices also feature a differential diagnosis guide based on clinical and biochemical phenotypes. This updated edition serves as a vital resource for busy clinicians and a quick reference for metabolic and genetic specialists.