J Korean Soc Pediatr Endocrinol.
2001 Jun;6(1):85-91.
A Case of Type I Glycogen Storage Disease with Decreased Growth Hormone Secretion
Abstract
- Glycogen storage diseases(GSD) are inherited disorders affecting glycogen metabolism and type I GSD is due to the absence or deficiency of glucose-6-phosphatase(G6Pase) enzyme in the liver, kidney, and intestinal mucosa. The defect leads to inadequate hepatic conversion of G6P to glucose and thus make affected individuals susceptible to fasting hypoglycemia, and the accumulation of glycogen occurs in the liver and other organs. Type Ia is the most common form of GSD and clinically growth retardation may manifest of GSD itself rather than growth hormone deficiency(GHD), but we experienced a case of type I GSD with GHD in a 14-year-o1d male. The height was 125 cm, compatible with 50 th percentile of height of 8 years of age. He has doll-like face with fat cheek, relatively thin extremities, and metabolic acidosis, hyperuricemia, hypoglycemia, hyperlipidemia. GH stimulation test with clonidine and L-dopa revealed that the patient had decreased GH secretion. After laboratory work up including liver biopsy, he was diagnosed as type I GSD. Hypoglycemia was managed with frequent feeding with high starch diet(uncooked cornstarch). Metabolic acidosis and hyperuricemia were treated with sodium bicarbonate, allopurinol and probenecid. The patient is being followed at out-patient clinic with clinical improvement after of diet therapy and GH administration.
MeSH Terms
-
Acidosis
Allopurinol
Biopsy
Cheek
Clonidine
Diet Therapy
Extremities
Glucose
Glycogen Storage Disease*
Glycogen*
Growth Hormone*
Humans
Hyperlipidemias
Hyperuricemia
Hypoglycemia
Intestinal Mucosa
Kidney
Levodopa
Liver
Male
Metabolism
Outpatients
Probenecid
Sodium Bicarbonate
Starch
Allopurinol
Clonidine
Glucose
Glycogen
Growth Hormone
Levodopa
Probenecid
Sodium Bicarbonate
Starch
