Type Ib glycogenosis.
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1997-07-01
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Abstract
Type Ib glycogenosis is a rare glycogen storage disorder resulting from a defect in the enzyme, glucose-6-phosphatase microsomal translocase. We report a case of Type Ib glycogenosis in an 18 month-old male child who presented with a history of hypoglycemic seizures and recurrent infections and had a massive hepatomegaly, recurrent hypoglycemia, hyperuricemia, hypertriglyceridemia, neutropenia and fasting lactacidemia which decreased sharply on glucose administration.
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Christopher R, Shetty KT. Type Ib glycogenosis. Indian Journal of Pediatrics. 1997 Jul-Aug; 64(4): 557-60