Glycogen storage disease type I: Diagnosis and phenotype/genotype correlation

Dietrich Matern, Hans Hermann Seydewitz, Deeksha Bali, Christine Lang, Yuan Tsong Chen

Research output: Contribution to journalArticle

48 Citations (Scopus)

Abstract

Glycogen storage disease type Ia (GSD Ia) is caused by mutations in the G6PC gene encoding the phosphatase of the microsomal glucose-6-phosphatase system. GSD Ia is characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, hyperlipidemia and short stature. Other forms of GSD I (GSD I non-a) are characterized by the additional symptom of frequent infections caused by neutropenia and neutrophil dysfunction. GSD I non-a is caused by mutations in a gene encoding glucose-6-phosphatase translocase (G6PT1). We report on the molecular genetic analyses of G6PC and G6PT1 in 130 GSD Ia patients and 15 GSD I non-a patients, respectively, and provide an overview of the current literature pertaining to the molecular genetics of GSD I. Among the GSD Ia patients, 34 different mutations were identified, two of which have not been described before (A65P; F177C). Seventeen different mutations were detected in the GSD I non-a patients. True common mutations were identified neither in GSD Ia nor in GSD I non-a patients. Conclusion: Glycogen storage disease type Ia and and type I non-a are genetically heterogenous disorders. For the diagnosis of the various forms of glycogen storage disease type I, molecular genetic analyses are reliable and convenient alternatives to the enzyme assays in liver biopsy specimens. Some genotype-phenotype correlations exist, for example, homozygosity for one G6PC mutation, G188R, seems to be associated with a glycogen storage disease type I non-a phenotype and homozygosity for the 727G > T mutation may be associated with a milder phenotype but an increased risk for hepatocellular carcinoma.

Original languageEnglish (US)
JournalEuropean Journal of Pediatrics, Supplement
Volume161
Issue number1
StatePublished - 2002

Fingerprint

Glycogen Storage Disease Type I
Genetic Association Studies
Glycogen Storage Disease
Mutation
Molecular Biology
Glucose-6-Phosphatase
Phenotype
Hyperuricemia
Hepatomegaly
Enzyme Assays
Hyperlipidemias
Neutropenia
Phosphoric Monoester Hydrolases
Hypoglycemia
Genes
Hepatocellular Carcinoma
Milk
Neutrophils
Biopsy
Liver

Keywords

  • Diagnosis
  • Glucose-6-phosphatase
  • Glucose-6-phosphate translocase
  • Glycogen storage disease type I
  • Molecular genetics

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Matern, D., Seydewitz, H. H., Bali, D., Lang, C., & Chen, Y. T. (2002). Glycogen storage disease type I: Diagnosis and phenotype/genotype correlation. European Journal of Pediatrics, Supplement, 161(1).

Glycogen storage disease type I : Diagnosis and phenotype/genotype correlation. / Matern, Dietrich; Seydewitz, Hans Hermann; Bali, Deeksha; Lang, Christine; Chen, Yuan Tsong.

In: European Journal of Pediatrics, Supplement, Vol. 161, No. 1, 2002.

Research output: Contribution to journalArticle

Matern, D, Seydewitz, HH, Bali, D, Lang, C & Chen, YT 2002, 'Glycogen storage disease type I: Diagnosis and phenotype/genotype correlation', European Journal of Pediatrics, Supplement, vol. 161, no. 1.
Matern, Dietrich ; Seydewitz, Hans Hermann ; Bali, Deeksha ; Lang, Christine ; Chen, Yuan Tsong. / Glycogen storage disease type I : Diagnosis and phenotype/genotype correlation. In: European Journal of Pediatrics, Supplement. 2002 ; Vol. 161, No. 1.
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abstract = "Glycogen storage disease type Ia (GSD Ia) is caused by mutations in the G6PC gene encoding the phosphatase of the microsomal glucose-6-phosphatase system. GSD Ia is characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, hyperlipidemia and short stature. Other forms of GSD I (GSD I non-a) are characterized by the additional symptom of frequent infections caused by neutropenia and neutrophil dysfunction. GSD I non-a is caused by mutations in a gene encoding glucose-6-phosphatase translocase (G6PT1). We report on the molecular genetic analyses of G6PC and G6PT1 in 130 GSD Ia patients and 15 GSD I non-a patients, respectively, and provide an overview of the current literature pertaining to the molecular genetics of GSD I. Among the GSD Ia patients, 34 different mutations were identified, two of which have not been described before (A65P; F177C). Seventeen different mutations were detected in the GSD I non-a patients. True common mutations were identified neither in GSD Ia nor in GSD I non-a patients. Conclusion: Glycogen storage disease type Ia and and type I non-a are genetically heterogenous disorders. For the diagnosis of the various forms of glycogen storage disease type I, molecular genetic analyses are reliable and convenient alternatives to the enzyme assays in liver biopsy specimens. Some genotype-phenotype correlations exist, for example, homozygosity for one G6PC mutation, G188R, seems to be associated with a glycogen storage disease type I non-a phenotype and homozygosity for the 727G > T mutation may be associated with a milder phenotype but an increased risk for hepatocellular carcinoma.",
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