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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Abstract
Glycogen storage disease type 1a (GSD1a) is an autosomal
recessively inherited inborn error of metabolism
caused by a mutation in the G6PC gene, which encodes the
catalytic subunit of glucose-6-phosphatase-α (G6Pase-α)
enzyme. This enzyme plays a role in the final step of gluconeogenesis
and glycogenolysis. Patients carrying GSD1a
show growth retardation, hypoglycemia, hepatomegaly,
hepatic steatosis, hyperlipidemia, hyperuricemia and lactic
acidemia. Long-term symptoms include gouty arthritis and
uric acid stones, osteoporosis, renal failure, intestinal impairment,
cirrhosis and hepatic adenomas, and eventually,
hepatocellular carcinoma. Hyperlipidemia is the indicator
of poor metabolic control in GSD1a. Patients with variable
levels of triglycerides (TGs) have been reported in the
literature. We present a case of GSD1a that presented with
severe hypertriglyceridemia (HTG) mimicking familial
chylomicronemia syndrome.
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