Inborn Errors of Metabolism - Part I
Ped. IEM
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Disorders in which single gene defects cause clinically significant blocks in metabolic pathways are called inborn errors of metabolism. Many of these disorders can now be treated effectively. Even when treatment is not available, correct diagnosis permits parents to make informed decisions about future offspring. The pathology is almost always due either to accumulation of enzyme, substrate behind a metabolic block or to deficiency of the reaction product. In some cases, the accumulated enzyme substrate is diffusible and has adverse effects on distant organs; in other cases, as in lysosomal s...
Disorders in which single gene defects cause clinically significant blocks in metabolic pathways are called inborn errors of metabolism. Many of these disorders can now be treated effectively. Even when treatment is not available, correct diagnosis permits parents to make informed decisions about future offspring. The pathology is almost always due either to accumulation of enzyme, substrate behind a metabolic block or to deficiency of the reaction product. In some cases, the accumulated enzyme substrate is diffusible and has adverse effects on distant organs; in other cases, as in lysosomal storage diseases, the substrate primarily accumulates locally. The book is classified to two Parts.Part I describes the: Disorders of Carbohydrate metabolism Disorders of lipid metabolismDisorders of amino acids metabolismThis book will be beneficial for under and postgraduate students and not only.
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