Warning: fopen(/home/virtual/enm-kes/journal/upload/ip_log/ip_log_2024-04.txt): failed to open stream: Permission denied in /home/virtual/lib/view_data.php on line 88 Warning: fwrite() expects parameter 1 to be resource, boolean given in /home/virtual/lib/view_data.php on line 89 A Case of Type Ia Glycogen Storage Disease.
Skip Navigation
Skip to contents

Endocrinol Metab : Endocrinology and Metabolism

clarivate
OPEN ACCESS
SEARCH
Search
Advanced Search
mobile menu button

Articles

Page Path
HOME > Endocrinol Metab > Volume 14(4); 1999 > Article
Case Report A Case of Type Ia Glycogen Storage Disease.
Young II Choi, Young In Choi, Jee Won Park, Yoon Sok Chung, Hyon Ju Kim
Endocrinology and Metabolism 1999;14(4):786-792

Published online: January 1, 2001
  • 949 Views
  • 19 Download
  • 0 Crossref
  • 0 Scopus
1Department of Endocrinology and Metabolism, Ajou University School of Medicine, Suwon, Korea.
2Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea.
Full Article

Download PDF Download PDF

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.

Related articles
Endocrinol Metab : Endocrinology and Metabolism
© Korean Endocrine Society.