Infant with hepatomegaly, hypoglycemia. hyperlipidemia and acidosis , diagnosis?
Correct Answer: Von Gierke's
Description: In type 1 Glycogen storage disorder the usual clinical features are : hepatomegaly failure to thrive hypoglycemia, becomes worse after overnight fasting, an inability of the liver to release glucose into the blood. ketosis acidosis hyperlipidemia, since free fatty acids are mobilised excessively to provide for energy needs of the body Ref : ESSENTIAL PEDIATRICS,O.P.GHAI,PG NO:636,7 th edition
Category:
Pediatrics
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