Glycogen S'torage Disease Type IV: A Case Report.

HASAN ALİ YÜKSEKKAYA, MEHMET EMRE ATABEK , BÜLENT ORAN, ÜMRAN ÇALIŞKAN, İbrahim Erkul

  • HASAN ALİ YÜKSEKKAYA: NECMETTİN ERBAKAN ÜNİVERİTESİ
  • MEHMET EMRE ATABEK: NECMETTİN ERBAKAN ÜNİVERSİTESİ
  • BÜLENT ORAN: SELÇUK ÜNİVERSİTESİ
  • ÜMRAN ÇALIŞKAN: SELÇUK ÜNİVERSİTESİ
  • İbrahim Erkul: Selçuk Üniversitesi Meram Tıp Fakültesi
  • Year : 2002
  • Vol : 18
  • Issue : 1
  •  Page : 67-70
Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disease caused by a deficiency of glycogen branching enzyme (GBE) activity. This results in the accumulation of abnormal glycogen in the liver and ot her organs. İn this study, the case of a 5-month-old female patient proven GSD-IV with percutaneous needle biopsy is reported and the importance of this disease among the causes of cirhosis in infancy is stressed.

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Conflict of interest : Yok
This article is published under the CC BY-NC 4.0 license.
Selcuk Medical Journal
2002, Vol. 18 (1)
ISSN: 1017-6616
E-ISSN: 2149-8059
Received : , Accepted : , Published Online :