ORPHA:369
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Also known as: GSD due to liver glycogen phosphorylase deficiency · GSD type 6 · GSD type VI · Glycogen storage disease type 6 · Glycogen storage disease type VI · Glycogenosis due to liver glycogen phosphorylase deficiency · Glycogenosis type 6 · Glycogenosis type VI · Hepatic glycogen phosphorylase deficiency · Hepatic phosphorylase deficiency · Hers disease · Liver glycogen phosphorylase deficiency
Clinical definition (Orphanet)
A rare form of glycogen storage disease (GSD) characterized by a deficiency of hepatic glycogen phosphorylase leading to impaired glycogenolysis, and characterized by and growth delay in childhood.
How rare: How common this is has not been clearly measured.
Is anyone studying this?
226
226 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
226 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
104 in the last 10 years · high confidence · 67.2th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (PYGL).
GenCC classification: Definitive.
Who's working on it?
1,775
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Berindan-Neagoe I12 papers · 2023
Research Center for Functional Genomics, Biomedicine and Translational Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania
Papers in Europe PMC - 02Burz C8 papers · 2023
Department of Immunology and Allergology, Faculty of Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania
Papers in Europe PMC - 03Chelaru V8 papers · 2023
Faculty of Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania
Papers in Europe PMC - 04Pralea I8 papers · 2023
Research Center for Advanced Medicine MedFUTURE, Cluj-Napoca, Romania
Papers in Europe PMC - 05Ţigu A8 papers · 2023
Research Center for Advanced Medicine MedFUTURE, Cluj-Napoca, Romania
Papers in Europe PMC - 06Toma V8 papers · 2023
Research Center for Advanced Medicine MEDFUTURE, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-Napoca, Romania
Papers in Europe PMC - 07Tomuleasa C8 papers · 2023
Research Center for Advanced Medicine MEDFUTURE, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-Napoca, Romania
Papers in Europe PMC - 08Vlase L8 papers · 2023
Department of Pharmaceutical Technology and Biopharmacy, Faculty of Pharmacy, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania
Papers in Europe PMC - 09Grama A7 papers · 2023
Department of 2 Pediatric Clinic, Faculty of Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania
Papers in Europe PMC - 10Iuga C7 papers · 2023
Research Center for Advanced Medicine MedFUTURE, Cluj-Napoca, Romania
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Glycogen storage disease due to liver glycogen phosphorylase deficiency" OR "GSD due to liver glycogen phosphorylase deficiency" OR "GSD type 6" OR "GSD type VI" OR "Glycogen storage disease type 6" OR "Glycogen storage disease type VI" OR "Glycogenosis due to liver glycogen phosphorylase deficiency" OR "Glycogenosis type 6" OR "Glycogenosis type VI" OR "Hepatic glycogen phosphorylase deficiency" OR "Hepatic phosphorylase deficiency" OR "Hers disease" OR "Liver glycogen phosphorylase deficiency" OR "PYGL glycogen storage disease" OR "glycogen storage disease VI" OR "glycogen storage disease caused by mutation in PYGL"
MeSH descriptor terms unioned into the query: Glycogen Storage Disease Type VI
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Glycogen storage disease due to liver glycogen phosphorylase deficiency" OR "GSD due to liver glycogen phosphorylase deficiency" OR "GSD type 6" OR "GSD type VI" OR "Glycogen storage disease type 6" OR "Glycogen storage disease type VI" OR "Glycogenosis due to liver glycogen phosphorylase deficiency" OR "Glycogenosis type 6" OR "Glycogenosis type VI" OR "Hepatic glycogen phosphorylase deficiency" OR "Hepatic phosphorylase deficiency" OR "Hers disease" OR "Liver glycogen phosphorylase deficiency" OR "PYGL glycogen storage disease" OR "glycogen storage disease VI" OR "PYGL" OR "disorder of glycogen metabolism"
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:D006013 OMIM:232700 UMLS:C0017925 NCIT:C126875
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus