Titlebook: Inborn Metabolic Diseases; Diagnosis and Treatm Jean-Marie Saudubray,Georges Berghe,John H. Walter Book 20125th edition Springer-Verlag Ber

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FIS

Diagnostic Procedures: Functional Tests and Post-mortem Protocolt give rise to toxicity or energy deficiency. The best functional test is elicited by nature itself during episodes that cause metabolic stress, including acute infection, inadvertent fasting, or consumption of a nutrient that induces a metabolic intolerance. If an inherited metabolic disease is sus

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Emergency Treatmentspresentation and the management depend mainly on the pathophysiology involved. This chapter focuses on the main clinical presentations in neonates and children with those inborn errors of metabolism for which emergency treatment may be life saving and outlines the first steps of such treatment up to

BOON

The Glycogen Storage Diseases and Related Disordersresent with hypoglycaemia, marked hepatomegaly, and retarded growth [6]. GSD I is the most severe of these four conditions, because both glycogenolysis and gluconeogenesis are impaired. Patients with GSD III have a syndrome that includes hepatopathy, myopathy and often cardiomyopathy. Unlike the oth

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Disorders of Fructose Metabolism fructose in the urine after the intake of fructose-containing food. In . (HFI), fructose may provoke prompt gastrointestinal discomfort and hypoglycaemia upon ingestion, symptoms that may vary from patient to patient and depend on the ingested dose. Fructose may cause liver and kidney failure when

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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, the range of manifestations extending from overwhelming neonatal lactic acidos