A Case of Type Ia Glycogen Storage Disease / 대한내분비학회지

ABSTRACT

Glycogen storage diseases are inherited disorders of carbohydrate metabolism caused by a deficiency of enzymes that are involved in degradation of glycogen in the liver. The accumulation of glycogen occurs in the liver and other organs. Type Ia is the most common form and clinically may manifest of glycogen storage disease itself rather than growth hormone deficiency. But in this case the patient showed exceptional extreme growth retardation. Growth hormone stimulation test with clonidine and L-dopa revealed that the patient had growth hormone deficiency. Therefore, we report of a case of glycogen storage disease type Ia with the presence of GH deficiency with review of literature. A 16-year-old male was admitted for the evaluation of hepatomegaly and extreme short stature. The height was 113.5cm, less than third percentile of same age group, and compatible with fiftieth percentile of height of 6 years of age. After laboratory work up including liver biopsy, he was diagnosed with type I glycogen storage disease. The patient was presented with metabolic acidosis, hyperuricemia, and hypoglycemia. Hypoglycemia was managed with frequent feeding with high starch diet and intravenous glucose infusion. Metabolic acidosis was treated with sodium bicarbonate. Secondary hyperuricemia was treated with allopurinol. The patient is being followed at out-patient clinic with clinical improvement after of GH administration.