Type Ib glycogenosis.
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.
Christopher
R
R
Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bangalore.
Shetty
K T
KT
D005953:Glycogen Storage Disease Type I / Q000150:complications / Q000175:diagnosis / Q000178:diet therapy; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D007223:Infant; D008297:Male; D009503:Neutropenia / Q000209:etiology