| Abstract: |
Inborn errors of metabolism are recognized with increasing frequency as a cause of disease manifestations in every organ and at every life interval from the fetus to the geriatric patients. Yet their collective incidence is often underestimated, and diagnostic errors often occur, leading to devastating consequences for patients and there families.Because the liver has a central role in synthetic, degenerative, and regulatory pathways involving the carbohydrate, protein, lipid trace elements, and vitamin metabolism, many metabolic abnormalities or specific enzyme deficiencies affect the liver primarily or secondarily.The clinical manifestations of the metabolic diseases of the liver mimic infections, intoxications, and hematologic, and immunologic diseases, further clues are provided by family history of a similar illness or by the observation that the onset of symptoms is closely associated with a change in dietary habits; for example, in patients with hereditary fructose intolerance, symptoms follow ingestion of fructose, Clinical and laboratory evidence often guides the evaluation, liver biopsy offers morphologic study and permits enzyme assays, as well as quantitative and qualitative assays of various other constituents, Genetic/molecular diagnosis is also available.
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