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Type Ib glycogenosis

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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 lacticacidemia which decreased sharply on glucose administration.

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Authors and Affiliations

  1. Department of Neurochemistry, National Institute of Mental Health and Neuro sciences, Post Box 2900, 560 029, Bangalore

    Rita Christopher MD (Assistant Professor) & K. Taranath Shetty

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  1. Rita Christopher MD
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  2. K. Taranath Shetty
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Christopher, R., Shetty, K.T. Type Ib glycogenosis. Indian J Pediatr 64, 557–560 (1997). https://doi.org/10.1007/BF02737768

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  • DOI: https://doi.org/10.1007/BF02737768

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