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Revista Paraense de Medicina

Print version ISSN 0101-5907


HUSNY, Antonette Souto El  and  FERNANDES-CALDATO, Milena Coelho. Inborn errors of metabolism: literature review. Rev. Para. Med. [online]. 2006, vol.20, n.2, pp.41-45. ISSN 0101-5907.

OBJECTIVE: review article about Inborn Errors of Metabolism (IEM). METHOD: made by research from MEDLINE and LILACS data base. CONCLUSION: they correspond to enzymatic alterations with genetic origin responsible for metabolic manifestations in which there is an error in the synthesis, degradation, storage or transportation of molecules in the organism. IEM are classic genetic disorders, therefore it is very important to know them for a good genetic counseling.

Keywords : inborn errors of metabolism; inherited metabolic disease.

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