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EXCESSIVE HEPATIC GLYCOGEN STORAGE IN GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY
Author(s) -
BIERVLIET J.P. G. M. VAN,
STAAL G. E. J.
Publication year - 1977
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1977.tb07899.x
Subject(s) - medicine , glycogen storage disease , glycogen , endocrinology
. Excessive amounts of glycogen were found in liver and erythrocytes of a patient suffering from generalized glucosephosphate isomerase deficiency. A low carbohydrate diet, frequent meals and avoidance of peak carbohydrate challenges resulted in a significant decrease of liver volume without affecting the haematological condition. The possible mechanism of these findings are discussed.

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