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A Case of Glycogenosis I.

Journal of the Korean Pediatric Society 1984;27(4):401-406.
Published online April 30, 1984.
A Case of Glycogenosis I.
Se Yoon Eun, Sung Hwan Kim, Sang Il Rhee, Sang Woo Kim, Hye Je Cho, In Ki Park
1Department of Pediatrics, In-Je Medical College, Seoul, Korea
2Department of Pathology, In-Je Medical College, Seoul Korea
당원증제 1형 1례
은세윤, 김성환, 이상일, 김상우, 조혜제, 백인기
1인제의과대학 서울백병원 소아과학교실
2인제의과대학 서울백병원 병리학교실
We experienced a case of Glycogenosis I in eleven-year-old boy. Clinical features were growth retardation, general weakness, abdominal distension due to hepatomegaly. His bone age was retarded, and huge hepatomegaly and both renal hypertropy was seen in CAT. Latoratory findings revealed epinephrine resistant hypoglycemia, hyperuricemia, metabolic acidosis with increased anion gap and acetonuria without glycosuria. Light microscopic findings of liver and kidney also revealed characteristic findings. He took the operation of portocaval shunt without any early or late complications. A brief review of glycogenosis I is also given.
Key Words: Glycogenosis I, Hepatomegaly, Growth retardation

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