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2 Cases of von Gierke’s Diseases in Brother and Sister

Journal of the Korean Pediatric Society 1976;19(12):947-954.
Published online December 31, 1976.
2 Cases of von Gierke’s Diseases in Brother and Sister
Yeong Jeon Kim, Bong Jeong Jeon, Myung Hi Shin, Jong Young Lee
Department of Pediatrics,Wallace Memorial Baptist Hospital Busan, Korea
남매에 발생한 von Gierke 씨 병 2례
김영전, 전봉정, 신명희, 이종영
왈레스기념 침례병원 소아과
Abstract
We experienced 2 suspected cases of von Gierke’s diseases in 7 years and 8 months old girl and 6 years and 5 months old boy who are brother and sister. They revealed abdominal distentions, huge livers, stunted growths and large amounts of glycogen storage in their livers on liver biopsies. Oral glucose tolerance tests and epinephrine tests revealed very low fasting blood sugar levels (15mg% in sister and 10mg% in brother) and their delayed returns to the fasting levels. Enzyme study.is unable to do in our laboratory at present time. A brief review of related literatures is also presented.


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