Endocrinology and Metabolism

Case Reports

A Case of Type Ia Glycogen Storage Disease Diagnosed in the Military Hospital.: Tae Woong Lee, Sang Youl Rhee, Joo Young Kim, Gu Hwan Kim, Han Wook Yoo, Jeong Taek Woo, Byung Ho Kim; Endocrinol Metab. 2011;26(1):84-88. Published online March 1, 2011; DOI: https://doi.org/10.3803/EnM.2011.26.1.84

Abstract PDF: We report here on a case of genetically confirmed type Ia glycogen storage disease (GSD) that was diagnosed in the military hospital. A twenty-year old soldier was admitted to the hospital with abdominal fullness. He had a past medical history of hepatomegaly that was firstly recognized at six months after birth, and he had been followed-up at an outpatient clinic with the presumptive diagnosis of type III GSD. He also had a history of growth hormone therapy because of growth retardation. However, he arbitrarily refused medical observation from 14 years of age. On the physical examination, the height of the patient was 163.1 cm and significant hepatomegaly was observed. Significantly abnormal liver-associated paramters were observed on the laboratory findings and multiple hepatic adenomas were observed on the CT exam and MRI scan. To determine the proper treatment, we tried to confirm the exact type of GSD in the patient. By mutational analysis, we found the c.648G>T homozygote splicing mutation in the G6PC gene and the patient was confirmed as having the type Ia GSD.

A Case of Type Ia Glycogen Storage Disease.: Young II Choi, Young In Choi, Jee Won Park, Yoon Sok Chung, Hyon Ju Kim; J Korean Endocr Soc. 1999;14(4):786-792. Published online January 1, 2001

Abstract PDF: 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.

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