Titlebook: Inborn Metabolic Diseases; Diagnosis and Treatm John Fernandes,Jean-Marie Saudubray,John H. Walter Book 20064th edition Springer-Verlag Ber

PAN

Persistent Hyperinsulinemic Hypoglycemiamportant cause of hypoglycemia in early infancy. The excessive secretion of insulin is responsible for profound hypoglycemia and requires aggressive treatment to prevent severe and irreversible brain damage. Onset can be in the neonatal period or later, with the severity of hypoglycemia decreasing w

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LEVY

Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycleynthesis, defects in pyruvate metabolism and in the TCA cycle almost invariably affect the central nervous system. The severity and the different clinical phenotypes vary widely among patients and are not always specific, with the range of manifestations extending from overwhelming neonatal lactic a

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HEDGE

Disorders of Ketogenesis and Ketolysisress. In defects of ketogenesis, decompensation leads to encephalopathy, with vomiting and a reduced level of consciousness, often accompanied by hepatomegaly. The biochemical features — hypoketotic hypoglycaemia, with or without hyperammonaemia — resemble those seen in fatty acid oxidation disorder

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Springer-Verlag Berlin Heidelberg 2006

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