ORPHA:132
Hereditary butyrylcholinesterase deficiency
Also known as: Hereditary pseudocholinesterase deficiency
Clinical definition (Orphanet)
Butyrylcholinesterase (BChE) deficiency is a disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the deficiency.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Is anyone studying this?
79
79 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.
79 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).
49 in the last 10 years · high confidence · 55.2th percentile (publications denominator)
Is a treatment being tested?
1
trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 26 July 2026
1 interventional trial — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 65.3th percentile).
high confidence · 65.3th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (BCHE).
GenCC classification: Definitive.
Who's working on it?
616
Distinct author names in 79 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Lockridge O5 papers · 2014
Eppley Institute, University of Nebraska Medical Center, Omaha, Nebraska, United States of America.
Papers in Europe PMC - 02Ceppa F4 papers · 2016
Bégin Military Teaching Hospital, Department of Biology, Unit of Human Genetics, Saint Mandé, France; Val de Grace Military Medical School, Paris, France.
Papers in Europe PMC - 03Delacour H4 papers · 2016
Bégin Military Teaching Hospital, Department of Biology, Unit of Human Genetics, Saint Mandé, France.
Papers in Europe PMC - 04Gätke MR3 papers · 2022
Department of Anaesthesiology, Herlev and Gentofte Hospital, Herlev, Denmark.
Papers in Europe PMC - 05Mabboux I3 papers · 2016
Bégin Military Teaching Hospital, Department of Biology, Unit of Human Genetics, Saint Mandé, France.
Papers in Europe PMC - 06Maekawa M3 papers · 2025
Department of Laboratory Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan. mmaekawa@hama-med.ac.jp
Papers in Europe PMC - 07Masson P3 papers · 2014
Eppley Institute, University of Nebraska Medical Center, Omaha, NE 68198-5950, USA. pmasson@unmc.edu
Papers in Europe PMC - 08Albrecht P2 papers · 2025
Department of Neurology, University of Düsseldorf, Düsseldorf, Germany.
Papers in Europe PMC - 09
- 10Chen Q2 papers · 2024
Department of Stomatology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510630, China.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
"Hereditary butyrylcholinesterase deficiency" OR "Hereditary pseudocholinesterase deficiency" OR "apnea, postanesthetic, susceptibility to, due to BCHE deficiency" OR "butyrylcholinesterase deficiency"
MeSH descriptor terms unioned into the query: Butyrylcholinesterase deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary butyrylcholinesterase deficiency" OR "Hereditary pseudocholinesterase deficiency" OR "apnea, postanesthetic, susceptibility to, due to BCHE deficiency" OR "butyrylcholinesterase deficiency" OR "BCHE"
Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C537417 OMIM:617936 UMLS:C1283400
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