A CASE OF GLYCOGEN STORAGE DISEASE TYPE 1a
MIMICKING FAMILIAL CHYLOMICRONEMIA SYNDROME
Olgac A1,*, Okur İ2, Biberoğlu G2, Ezgü FS2, Tümer L2
*Corresponding Author: Dr. Asburce Olgac, Department of Pediatric Metabolism, University of
Health Sciences, Dr. Sami Ulus Maternity and Child Health, Training and Research Hospital, Ankara,
Turkey. Tel.: +90-312-305-600. Fax: +90-312-317-03-53. E-mail: mabolgac@yahoo.com
page: 103
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CONCLUSIONS
Our case reveals that the diagnosis of GSD1a may
be challenging, due to its variable presentations. Although
hypoglycemia is a key symptom, it may be overlooked and
lead to delay of diagnosis. Symptoms of GSD1a should be
kept in mind and investigated in patients with metabolic
decompansation signs including hepatomegaly, hepatosteatosis
and dyslipidemia.
Declaration of Interest. The authors report no conflicts
of interest. The authors alone are responsible for the
content and writing of this article.
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