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Case Reports
. 1997 Jul-Aug;64(4):557-60.
doi: 10.1007/BF02737768.

Type Ib glycogenosis

R Christopher  1 , K T Shetty
Affiliations
Case Reports

Type Ib glycogenosis

R Christopher et al. Indian J Pediatr. 1997 Jul-Aug.

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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