Atlas of Inherited Metabolic Diseases 4th edition

In pediatric metabolic medicine, clinicians may go years without encountering certain rare disorders, making a comprehensive, practical reference essential. This highly illustrated book provides in-depth coverage of the full spectrum of metabolic diseases, from amino acid and lipid storage disorders to mitochondrial conditions. Each section groups related disorders and begins with an overview of biochemical features and general management principles. Individual chapters focus on specific diseases, summarizing major phenotypic expressions, biochemical pathways, and the precise location of metabolic defects. Plentiful photographs and illustrations—including rare conditions—enhance diagnostic accuracy and clinical understanding.

Key Features

• Fully updated fourth edition incorporating the latest developments in pediatric metabolic medicine
• New chapters on disorders such as methylmalonic aciduria (ACSF3 deficiency), branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, and antiquitin deficiency
• Detailed clinical descriptions with practical hints and management suggestions
• Includes explanatory algorithms, decision trees, biochemical pathways, and high-quality illustrations
• Extensive photographic collection supporting recognition of rare disorders
• Serves as an invaluable resource for pediatricians, geneticists, and general clinicians managing metabolic diseases