Metabolic Disorders (2024) Pamela Trapane, MD

Description

A comprehensive review of metabolic disorders covering Inborn Errors of Metabolism (IEM), including mechanisms of intoxication, inheritance patterns, and specific presentations like acute and chronic encephalopathy. The text details disorders of amino acid metabolism (e.g., MSUD, Homocystinuria), urea cycle disorders, organic acidemias, sugar intolerances, energy utilization defects, sphingolipidoses (e.g., Gaucher, Tay-Sachs), peroxisomal disorders, and abnormalities in mineral, purine, porphyrin, and lipid metabolism. Includes references to MedStudy Hub guidelines.