ORPHA:284426
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Also known as: GSD due to lactate dehydrogenase M-subunit deficiency · Glycogenosis due to lactate dehydrogenase M-subunit deficiency · LDH-M subunit deficiency · Lactate dehydrogenase A deficiency
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
39
37.8th percentile
Trials
0
Interventional, condition-specific
Researchers
253
Distinct authors in sample
Gene link
LDHA
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare glycogen storage disease characterized by easy fatigue, exertional myalgia, painful muscle stiffness, and cramps, with or without myoglobinuria. Pustular psoriasis-like eruptions with antecedent annular scaly plaques may be observed in some patients. In affected women, pregnancy may be complicated by abdominal pain and dystocia.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013047
- MeSH:C538133
- OMIM:612933
- UMLS:C2931743
Additional Mondo synonyms (4)
LDHA glycogen storage disease · glycogen storage disease caused by mutation in LDHA · glycogenosis due to lactate dehydrogenase M-subunit deficiency · lactate dehydrogenase A deficiency
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — LDHA
- LiteraturePresent
39 matched papers (21 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (LDHA).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
39
39 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=5449) is 41.
39 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
21 in the last 10 years · high confidence · 37.8th percentile (publications denominator)
Phrase hits: 39 · MeSH hits: 0
Who's working on it?
253
Distinct author names in 39 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.
- 01Kaneko E3 papers · 1995Papers in Europe PMC
- 02Kanno T3 papers · 1993
Department of Laboratory Medicine, Hamamatsu University School of Medicine.
Papers in Europe PMC - 03Miyajima H3 papers · 1995
First Department of Medicine, Hamamatsu University School of Medicine, Japan.
Papers in Europe PMC - 04Sudo K3 papers · 2002
Department of Laboratory Medicine, Jikei University Daisan Hospital, Komae.
Papers in Europe PMC - 05Takahashi Y3 papers · 1995Papers in Europe PMC
- 06Chen A2 papers · 1996
Department of Oral Biology, University of Florida College of Dentistry, Gainesville 32610.
Papers in Europe PMC - 07Hillman JD2 papers · 1996
Department of Oral Biology, University of Florida College of Dentistry, Gainesville 32610, USA. jhillman@dental.ufl.edu
Papers in Europe PMC - 08Li H2 papers · 2023
BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.
Papers in Europe PMC - 09Maekawa M2 papers · 1993
Department of Laboratory Medicine, Hamamatsu University School of Medicine.
Papers in Europe PMC - 10Abikshyeet P1 paper · 2022
Department of Oral and Maxillofacial Pathology and Microbiology, Kalinga Institute of Dental Sciences, Kalinga Institute of Industrial Technology Deemed to be University, Bhubaneswar, Odisha, India.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
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 — people publishing on this disease are often the practical next contact when no trial is listed.
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 on the overview but are not added to the query string.
"Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency" OR "GSD due to lactate dehydrogenase M-subunit deficiency" OR "Glycogenosis due to lactate dehydrogenase M-subunit deficiency" OR "LDH-M subunit deficiency" OR "Lactate dehydrogenase A deficiency" OR "LDHA glycogen storage disease"
MeSH descriptor terms unioned into the query: Lactate dehydrogenase deficiency type A
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency" OR "GSD due to lactate dehydrogenase M-subunit deficiency" OR "Glycogenosis due to lactate dehydrogenase M-subunit deficiency" OR "LDH-M subunit deficiency" OR "Lactate dehydrogenase A deficiency" OR "LDHA glycogen storage disease" OR "Lactate dehydrogenase deficiency type A" OR "LDHA" OR "disorder of glycogen metabolism"
Recall-expansion terms: LDHA, disorder of glycogen metabolism
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: glycogen storage disease caused by mutation in LDHA
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T12:06:44.386Z