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IEMbase 0488: GBE1-related glycogen branching enzyme deficiency

Scope

Field Value
IEMbase ID 488
Nosology 3.4.07.01
Gene GBE1
External IDs OMIM:232500; ORPHA:308621
Generated mapping MAPPED; HIGH; Glycogen_Storage_Disease_Type_IV.yaml
Candidate DisMech targets Glycogen_Storage_Disease_Type_IV.yaml
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents autosomal recessive GBE1-related glycogen branching enzyme deficiency as glycogen storage disease type IV / Andersen disease / adult polyglucosan body disease. Treatments are liver transplantation and a low-carbohydrate, protein-enriched diet. Biochemical rows include increased ASAT/ALAT, decreased branching enzyme in fibroblasts, liver, muscle, red blood cells, and white blood cells, prolonged prothrombin time, increased hepatic glycogen, increased bilirubin, and decreased coagulation factors. Clinical rows include adult polyglucosan body disease, arthrogryposis multiplex, cardiomyopathy, failure to thrive, fasting intolerance, axial hypotonia, muscle weakness, and muscular atrophy.

DisMech phenotype coverage

Glycogen_Storage_Disease_Type_IV.yaml is the correct local target. The entry models autosomal recessive GBE1 deficiency, impaired glycogen branching, poorly branched glycogen / polyglucosan accumulation, hepatic, cardiac, neuromuscular, congenital, childhood, and adult polyglucosan body disease subtypes, failure to thrive, hypotonia, cardiomyopathy, muscle weakness, skeletal muscle atrophy, prolonged prothrombin time, glycogen branching enzyme activity testing, polyglucosan storage, liver transplantation, and symptomatic management.

Concordance and completeness

Judgement: correct generated mapping with high concordance.

IEMbase and DisMech agree on the GBE1/GSD IV identity, recessive inheritance, branching enzyme deficiency, polyglucosan storage, multisystem hepatic, cardiac, neuromuscular, and adult APBD spectrum, and liver transplantation for progressive hepatic disease. IEMbase adds more explicit compartmental prompts for branching enzyme testing in fibroblast, liver, muscle, RBC, and WBC, and it lists bilirubin, coagulation-factor decrease, fasting intolerance, and protein-enriched low-carbohydrate dietary management as import prompts.

Curation actions

  • Treat this as covered by Glycogen_Storage_Disease_Type_IV.yaml.
  • If importing IEMbase prompts, verify compartment-specific branching enzyme testing, bilirubin, coagulation-factor reduction, fasting intolerance, and dietary wording.
  • Review the IEMbase ORPHA:308621 versus local Orphanet ORPHA:367 identifier difference before using Orphanet-derived evidence.