Abstract

RODRIGUEZ AUAD, Juan Pablo; VILLALOBOS, Rita; LUNA, Beatriz  and  TAMAYO, Luis. GLYCOGEN STORAGE DISEASE: FIRST CLINICOPATHOLOGIC PEDIATRIC CASE DESCRIBED IN BOLIVIA. Rev. Méd. La Paz [online]. 2015, vol.21, n.2, pp.40-45. ISSN 1726-8958.

Glycogen storage diseases are inherited metabolic disorders of glycogen metabolism. There are over 12 types, they may affect primarily the liver and muscle. They are classified and the affected tissue. The case of a 4 y 6m old-male infant is presented, with growth retardation, thin limbs, rounded cheeks. Laboratory testing showed hypoglycemia, hyperlipidermia, hyperuricemia. Imagenoly testing showed severe diffuse hepatomegaly. Histopathology concluded in glycogen storage disease, the enzyme deficiency could not be established because of the unavailability of these test in Bolivia. The patient is followed by consult, diet therapy to prevent complications.

Keywords : glycogen storage disease; Von Gierke's disease.

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