Adult Polyglucosan Body Disease Deep Research Fallback

Date: 2026-05-07

Provider Attempts

• Falcon provider: timeout 120s just research-disorder falcon Adult_Polyglucosan_Body_Disease timed out with no usable artifact.
• OpenAI provider: timeout 120s just research-disorder openai Adult_Polyglucosan_Body_Disease timed out with no usable artifact.

Evidence Scope Used For Curation

The YAML curation was completed from regenerated Orphanet cache and cached primary literature:

• ORPHA:206583: Orphanet structured record for APBD definition, inheritance, GBE1 gene association, prevalence, and phenotype frequencies.
• DOI:10.1002/ana.23598: 50-patient APBD natural history and MRI cohort supporting neurogenic bladder, spastic paraplegia, axonal neuropathy, cognitive decline, GBE1 mutation data, and characteristic brain/spine MRI findings.
• PMID:33141444: GBE1-related disorders review supporting APBD inheritance, GBE1 causality, glycogen branching enzyme deficiency, polyglucosan body storage, and neuromuscular phenotypic spectrum.
• PMID:36796138: clinical practice resource for diagnosis and management of GSD IV/APBD.
• PMID:25665141: deep intronic GBE1 variant evidence supporting molecular genetic testing and GBE1 causality.
• DOI:10.3389/fneur.2023.1261125: APBD proteomics study supporting secondary proteostasis and cellular stress pathway dysregulation.
• PMID:29110179 and clinicaltrials:NCT00947960: triheptanoin randomized crossover trial and registry evidence, including lack of demonstrated efficacy over six months.