Korean J Pediatr Gastroenterol Nutr.  2001 Sep;4(2):213-217.

Mutation Analysis of Korean Patients with Glycogen Storage Disease Type Ia

• Kim JW
• Park JY
• Seo JK

Abstract

PURPOSE: Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive disorder of glycogen metabolism caused by glucose-6-phosphatase (G6Pase) deficiency. The clinical manifestations of G6Pase deficiency include growth retardation, hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia and hyperuricemia. Many mutations of this gene have been found worldwide in various ethnic groups, establishing the molecular basis of GSD Ia. To elucidate a spectrum of the G6Pase gene mutations in Korean, we analyzed mutations in Korean patients with GSD Ia.
METHODS
Both alleles of 9 unrelated GSD 1a patients were studied by PCR and direct DNA sequencing methods. In all patients, GSD 1a was diagnosed by the enzyme assay for the liver biopsy specimen.
RESULTS
In Korean, the most prevalent mutation was g727t substitution in exon 5, which has been reported to cause abnormal mRNA splicing: Sixteen out of 18 alleles were found to have this mutation. In addition, we identified one novel mutation, a c611g, converting a proline to an alanine at codon 178.
CONCLUSION
Our findings suggest that a screening for the g727t mutation by noninvasive molecular method can detect most cases of GSD Ia in Korean patients.

Keyword

Glycogen storage disease type Ia; GSD; Glucose-6-phosphatase; Mutations; Korean

MeSH Terms

Alanine
Alleles
Biopsy
Codon
Enzyme Assays
Ethnic Groups
Exons
Glucose-6-Phosphatase
Glycogen Storage Disease*
Glycogen*
Hepatomegaly
Humans
Hyperlipidemias
Hyperuricemia
Hypoglycemia
Liver
Mass Screening
Metabolism
Polymerase Chain Reaction
Proline
RNA, Messenger
Sequence Analysis, DNA
Alanine
Codon
Glucose-6-Phosphatase
Glycogen
Proline
RNA, Messenger