|CURRENT Diagnosis & Treatment: Pediatrics|
Chapter 34. Inborn Errors of MetabolismJanet A. Thomas, Johan L.K. Van Hove
Sections: Diagnosis, Suspecting Inborn Errors, Laboratory Studies, Common Clinical Situations, Management of Metabolic Emergencies, Newborn Screening, Disorders of Carbohydrate Metabolism, Glycogen Storage Diseases, Galactosemia, Hereditary Fructose Intolerance, Disorders of Energy Metabolism, Disorders of Amino Acid Metabolism, Disorders of the Urea Cycle, Phenylketonuria & the Hyperphenylalaninemias, Hereditary Tyrosinemia, Maple Syrup Urine Disease (Branched-Chain Ketoaciduria), Homocystinuria, Nonketotic Hyperglycinemia, Organic Acidemias, Propionic & Methylmalonic Acidemia (Ketotic Hyperglycinemias), Isovaleric Acidemia, Carboxylase Deficiency, Glutaric Acidemia Type I, Disorders of Fatty Acid Oxidation & Carnitine, Fatty Acid Oxidation Disorders, Carnitine, Purine Metabolism Disorders, Lysosomal Diseases, Peroxisomal Diseases, Congenital Disorders of Glycosylation, Smith-Lemli-Opitz Syndrome & Disorders of Cholesterol Synthesis, Disorders of Neurotransmitter Metabolism, Creatine Synthesis Disorders.
Excerpt:"Disorders in which single gene defects cause clinically significant blocks in metabolic pathways are called inborn errors of metabolism. Once considered rare, the number of recognized inborn errors has increased dramatically and they are now recognized to affect 1:1500 children. Many of these disorders can be treated effectively. Even when treatment is not available, correct diagnosis permits parents to make informed decisions about future offspring...."
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