Indian Journal of Pediatrics
Type Ib glycogenosis.
登録ユーザーのみが記事を翻訳できます
ログインサインアップ
リンクがクリップボードに保存されます
キーワード
概要
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.