A simple, rapid test for the differential diagnosis of glycogen storage disease type 3

Bhuiyan, Jalaluddin; Odaib, Ali; Özand, Pinar

doi:10.1016/s0009-8981(03)00234-1

Cited by 9 publications

(7 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Several case reports and large cohort studies were reported for GSD III, [20][21][22][23][24][25][26] summarized in Table S1. Large cohorts included patients with ages averaging 26 years, 10 19 years, 12 or 17 years.…”

Section: Review Of Literature For Gsd III Patientsmentioning

confidence: 99%

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring

Halaby

Young

Austin

et al. 2019

Genetics in Medicine

View full text Add to dashboard Cite

In glycogen storage disease type III (GSD III), liver aminotransferases tend to normalize with age giving an impression that hepatic manifestations improve with age. However, despite dietary treatment, long-term liver complications emerge. We present a GSD III liver natural history study in children to better understand changes in hepatic parameters with age. Methods: We reviewed clinical, biochemical, histological, and radiological data in pediatric patients with GSD III, and performed a literature review of GSD III hepatic findings. Results: Twenty-six patients (median age 12.5 years, range 2-22) with GSD IIIa (n = 23) and IIIb (n = 3) were enrolled in the study. Six of seven pediatric patients showed severe fibrosis on liver biopsy (median [range] age: 1.25 [0.75-7] years). Markers of liver injury (aminotransferases), dysfunction (cholesterol, triglycerides), and glycogen storage (glucose tetrasaccharide, Glc 4) were elevated at an early age, and decreased significantly thereafter (p < 0.001). Creatine phosphokinase was also elevated with no significant correlation with age (p = 0.4). Conclusion: Liver fibrosis can occur at an early age, and may explain the decrease in aminotransferases and Glc 4 with age. Our data outlines the need for systematic follow-up and specific biochemical and radiological tools to monitor the silent course of the liver disease process.

show abstract

Section: Review Of Literature For Gsd III Patientsmentioning

confidence: 99%

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring

Halaby

Young

Austin

et al. 2019

Genetics in Medicine

View full text Add to dashboard Cite

show abstract

“…These manifestations were the predominant features. 17 Hypoglycemia is rare in neonates but often manifests after 2 years of age, when parents reduce feeding frequency. 18 Generally, hypoglycemia is the primary clinical manifestation of GSD III.…”

Section: Discussionmentioning

confidence: 99%

“…20,21 Skeletal and cardiac muscle involvement occurs much more later. 17 It is detected by the elevation of plasma creatine kinase and transaminase (alanine aminotranferease and aspartate aminotransferase). 22 This, reflect cytolysis caused by the cellular accumulation of abnormal structured glycogen.…”

Section: Discussionmentioning

confidence: 99%

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

et al. 2011

View full text Add to dashboard Cite

Glycogen storage disease type III (GSD III) is an autosomal recessive inborn error of metabolism caused by mutations in the glycogen debranching enzyme amylo-1,6-glucosidase gene, which is located on chromosome 1p21.2. GSD III is characterized by the storage of structurally abnormal glycogen, termed limit dextrin, in both skeletal and cardiac muscle and/or liver, with great variability in resultant organ dysfunction. The spectrum of AGL gene mutations in GSD III patients depends on ethnic group. The most prevalent mutations have been reported in the North African Jewish population and in an isolate such as the Faroe Islands. Here, we present the molecular and biochemical analyses of 22 Tunisian GSD III patients. Molecular analysis revealed three novel mutations: nonsense (Tyr1148X) and two deletions (3033_3036del AATT and 3216_3217del GA) and five known mutations: three nonsense (R864X, W1327X and W255X), a missense (R524H) and an acceptor splice-site mutation (IVS32-12A4G). Each mutation is associated to a specific haplotype. This is the first report of screening for mutations of AGL gene in the Tunisian population.

show abstract

“…Information on prevalent mutations would improve molecular diagnosis of GSD III in these populations and genetic counseling. However, in other ethnic groups, genetic heterogeneity has been widely reported (24). In Japan, 11 different mutations have been described (10).…”

Section: Discussionmentioning

confidence: 99%

A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect

et al. 2011

View full text Add to dashboard Cite

Glycogen storage disease type III (GSD III) is an autosomal recessive disorder characterized by excessive accumulation of abnormal glycogen in the liver and muscles and caused by deficiency in the glycogen debranching enzyme, the amylo-1,6-glucosidase (AGL). In this study, we report the clinical, biochemical and genotyping features of five unrelated GSD III patients coming from the same region in Tunisia. The concentration of erythrocyte glycogen and AGL activity were measured by colorimetric and fluorimetric methods, respectively. Four CA/TG microsatellite markers flanking the AGL gene in chromosome 1 were amplified with fluoresceinated primers. The full coding exons and their relevant exon-intron boundaries of the AGL gene were directly sequenced for the patients and their parents. All patients showed a striking increase of erythrocytes glycogen content. No AGL activity was detected in peripheral leukocytes. Sequencing of the AGL gene identified a c.3216_3217delGA (p.Glu1072AspfsX36) mutation in the five patients which leads to a premature termination, abolishing the AGL activity. Haplotype analysis showed that the mutation was associated with a common homozygote haplotype. Our results suggested the existence of a founder effect responsible for GSD III in this region of Tunisia.

show abstract

A simple, rapid test for the differential diagnosis of glycogen storage disease type 3

Cited by 9 publications

References 7 publications

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect

Contact Info

Product

Resources

About