J Korean Child Neurol Soc.
2009 May;17(1):78-83.
A Case Report of Genetically Confirmed Glycogen Storage Disease type Ia
- Affiliations
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- 1Department of Pediatrics, School of Medicine, Chonbuk National University, Jeonju, Korea. sunjun@chonbuk.ac.kr
Abstract
- Glycogen storage disease(GSD) type Ia is an autosomal recessive disease, caused by the absence or deficiency of glucose-6-phosphatase activity in the liver, kidney, and intestinal mucosa. Glucose-6-phosphatase is an essential enzyme necessary for gluconeogenesis and glycogenolysis. GSD type Ia is characterized by hypoglycemia, lactic acidosis, hepatomegaly, seizures, doll-like faces with fat cheeks, thin extremities, short stature, protuberant abdomen, easy bruising and epistaxis, delayed puberty, early gout, pancreatitis, kidney stone, and other metabolic derangements such as hyperlipidemia. The most important complications of GSD-Ia are focal segmental glomerulosclerosis and hepatic adenomas. Various mutations have been reported. The most common mutation sites are g727t, G122D, and T255I and also P178A and Y128X muations have been reported. We experienced a female patient showing typical clinical characteristics, laboratory findings such as hypoglycemia, hyperuricemia, and hyperlipidemia, and g727t mutation confirmed by DNA analysis. We present this case with a brief review of related articles
MeSH Terms
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Abdomen
Acidosis, Lactic
Adenoma
Cheek
DNA
Epistaxis
Extremities
Female
Glomerulosclerosis, Focal Segmental
Gluconeogenesis
Glucose-6-Phosphatase
Glycogen
Glycogen Storage Disease
Glycogen Storage Disease Type I
Glycogenolysis
Gout
Hepatomegaly
Humans
Hyperlipidemias
Hyperuricemia
Hypoglycemia
Intestinal Mucosa
Kidney
Kidney Calculi
Liver
Pancreatitis
Puberty, Delayed
Seizures
DNA
Glomerulosclerosis, Focal Segmental
Glucose-6-Phosphatase
Glycogen
Glycogen Storage Disease Type I
