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vol.33 número2BREVE HISTORIA DE LA RELACIÓN ENTRE EL COLESTEROL Y LAS ENFERMEDADES CARDIOVASCULARESBIODISPONIBILIDAD DE HIERRO EN HUMANOS índice de autoresíndice de materiabúsqueda de artículos
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Revista chilena de nutrición

versión On-line ISSN 0717-7518

Resumen

CORNEJO E, Verónica  y  RAIMANN B, Erna. TYPE I AND III GLYCOGENESIS. Rev. chil. nutr. [online]. 2006, vol.33, n.2, pp. 135-141. ISSN 0717-7518.  http://dx.doi.org/10.4067/S0717-75182006000200002.

Glycogen-storage diseases (GSD) are caused by enzymatic defects of glycogen degradation. Most of these enzymatic defects are mainly localized in the liver. In this group the clinical symptoms are hepatomegaly and hypoglycemia. Other enzyme defects are localized in muscles. Their global incidence is 1: 20.000 newborns and the inheritance is autosomal recessive, except for one, that is X-linked inherited. The most frequent GSD types are I, II, III and VI. Type I-a GSD is due to glucose-6- phosphatase deficiency and type III GSD is due to debranching-enzyme deficiency. In both types the clinical presentations include hypoglycemia, hepatomegaly, hyperlactacidemia and hyperlipidemia. The complications like gout, progressive renal failure and liver adenoma in type I-a GSD are particularly observed in adults. The aim of treatment is to prevent hypoglycemia and suppress secondary metabolic derangements with a diet every 2-3 hours 24 hours a day, providing precooked starch and uncooked starch. The prognosis, as in the majority of inborn errors of metabolism, depends on the age at diagnosis, early treatment and good follow-up during life

Palabras llave : Glycogen-storage diseases; glycogen; hepatomegaly; uncooked starch.

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