ORPHA:156
Carnitine palmitoyl transferase 1A deficiency
Also known as: CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency · Hepatic carnitine palmitoyl transferase 1 deficiency · Hepatic carnitine palmitoyl transferase I deficiency · L-CPT1 deficiency · L-CPTI deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
270
78th percentile
Trials
1
Interventional, condition-specific
Researchers
1,416
Distinct authors in sample
Gene link
CPT1A
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic and risk of liver failure.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009705
- MeSH:C535588
- OMIM:255120
- UMLS:C1829703
- NCIT:C98871
Additional Mondo synonyms (9)
CPT1A disorder of carnitine cycle and carnitine transport · Carnitine Palmitoyltransferase 1A Deficiency · carnitine palmitoyl transferase 1A deficiency · carnitine palmitoyl transferase IA deficiency · carnitine palmitoyltransferase I deficiency · cpt deficiency, hepatic, type IA · disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A · hepatic carnitine palmitoyl transferase 1 deficiency · hepatic carnitine palmitoyl transferase I 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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — CPT1A
- LiteraturePresent
270 matched papers (191 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 trialPresent
1 matched on ClinicalTrials.gov
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 (CPT1A).
GenCC classification: Definitive.
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?
270
270 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.
270 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).
191 in the last 10 years · medium confidence · 78th percentile (publications denominator)
Phrase hits: 270 · MeSH hits: 0
Who's working on it?
1,416
Distinct author names in 200 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.
- 01Wang Y13 papers · 2025
Key Laboratory of Pathobiology, Ministry of Education, Jilin University, Changchun, Jilin, China.
Papers in Europe PMC - 02Li X8 papers · 2025
Affiliated Cancer Hospital & Institute of Guangzhou Medical University, Guangzhou, 510095, China.
Papers in Europe PMC - 03Zhang Y7 papers · 2025
Department of Pharmacology, SKLFZCD, (State Key Laboratory -Province Key Laboratories of Biomedicine-Pharmaceutics of China, Key Laboratory of Cardiovascular Research, Ministry of Education), College of Pharmacy, Harbin Medical University, Harbin, 150081, China.
Papers in Europe PMC - 04Huang X6 papers · 2025
Pharmacology Laboratory of Prevention and Treatment of High Incidence of Disease, Guilin Medical University, Guilin, China.
Papers in Europe PMC - 05Li Y6 papers · 2026
Affiliated Cancer Hospital & Institute of Guangzhou Medical University, Guangzhou, 510095, China.
Papers in Europe PMC - 06Carmeliet P4 papers · 2025
Laboratory of Angiogenesis and Vascular Metabolism, Department of Oncology and Leuven Cancer Institute, KU Leuven, VIB Center for Cancer Biology, VIB, Leuven, Brussels, 3000, Belgium.
Papers in Europe PMC - 07Chen Y4 papers · 2025
Department of Pharmacology, SKLFZCD, (State Key Laboratory -Province Key Laboratories of Biomedicine-Pharmaceutics of China, Key Laboratory of Cardiovascular Research, Ministry of Education), College of Pharmacy, Harbin Medical University, Harbin, 150081, China.
Papers in Europe PMC - 08Gao Y4 papers · 2025
Pharmacology Laboratory of Prevention and Treatment of High Incidence of Disease, Guilin Medical University, Guilin, China.
Papers in Europe PMC - 09Koeller DM4 papers · 2023
Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA.
Papers in Europe PMC - 10Lee BH4 papers · 2026
*Department of Pediatrics †Medical Genetics Center ‡Genome Research Center for Birth Defects and Genetic Disorders, Asan Medical Center, University of Ulsan College of Medicine §Green Cross Reference Laboratory ||Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
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.
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.
None of the matched observational studies is currently listed as 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 on the overview but are not added to the query string.
"Carnitine palmitoyl transferase 1A deficiency" OR "CPT1A deficiency" OR "Carnitine palmitoyl transferase IA deficiency" OR "Hepatic carnitine palmitoyl transferase 1 deficiency" OR "Hepatic carnitine palmitoyl transferase I deficiency" OR "L-CPT1 deficiency" OR "L-CPTI deficiency" OR "CPT1A disorder of carnitine cycle and carnitine transport" OR "CPT1A disorder of the carnitine cycle and carnitine transport" OR "Carnitine Palmitoyltransferase 1A Deficiency" OR "carnitine palmitoyltransferase I deficiency" OR "cpt deficiency, hepatic, type IA" OR "disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A" OR "disorder of the carnitine cycle and carnitine transport caused by mutation in CPT1A"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Carnitine palmitoyl transferase 1A deficiency" OR "CPT1A deficiency" OR "Carnitine palmitoyl transferase IA deficiency" OR "Hepatic carnitine palmitoyl transferase 1 deficiency" OR "Hepatic carnitine palmitoyl transferase I deficiency" OR "L-CPT1 deficiency" OR "L-CPTI deficiency" OR "CPT1A disorder of carnitine cycle and carnitine transport" OR "CPT1A disorder of the carnitine cycle and carnitine transport" OR "Carnitine Palmitoyltransferase 1A Deficiency" OR "carnitine palmitoyltransferase I deficiency" OR "cpt deficiency, hepatic, type IA" OR "disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A" OR "disorder of the carnitine cycle and carnitine transport caused by mutation in CPT1A" OR "CPT1A"
Recall-expansion terms: CPT1A
Interventional trials matched via: phrase (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 · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
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
- Publication count (270) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T12:40:51.299Z