ORPHA:158
Systemic primary carnitine deficiency
Also known as: CDSP · CUD · Carnitine transporter defect · Carnitine uptake deficiency · Deficiency of plasma-membrane carnitine transporter · SPCD
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
3,810
95.5th percentile
Trials
6
Interventional, condition-specific
Researchers
1,217
Distinct authors in sample
Gene link
SLC22A5
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder of carnitine cycle and carnitine transport that is characterized classically by early childhood onset often with weakness and , and recurrent hypoglycemic hypoketotic and/or coma.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008919
- MeSH:C536778
- OMIM:212140
- UMLS:C0342788
- NCIT:C98864
Additional Mondo synonyms (8)
Carnitine deficiency · carnitine transporter deficiency · carnitine uptake defect · cud · deficiency of plasma-membrane carnitine transporter · primary carnitine deficiency · renal carnitine transport defect · systemic primary carnitine deficiency disease
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 — SLC22A5
- LiteraturePresent
3,810 matched papers (1,927 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
6 matched on ClinicalTrials.gov (1 recruiting in sample)
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 (SLC22A5).
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?
3,810
3,810 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
3,810 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).
1,927 in the last 10 years · medium confidence · 95.5th percentile (publications denominator)
Phrase hits: 3,810 · MeSH hits: 0
Who's working on it?
1,217
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.
- 01Zhang H10 papers · 2025
Neonatal Disease Screening Center, The Maternal and Child Health Hospital of Shaoyang City, Shaoyang, China.
Papers in Europe PMC - 02Lin Y9 papers · 2026
Neonatal Disease Screening Center in Quanzhou, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian 362000, China. wrightlym@sina.com.
Papers in Europe PMC - 03Zheng Z9 papers · 2025
Center of Neonatal Disease Screening, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, 362000, Fujian Province, China.
Papers in Europe PMC - 04Lin W8 papers · 2026
Center of Neonatal Disease Screening, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, 362000, Fujian Province, China. ymlin0819@foxmail.com.
Papers in Europe PMC - 05Wang Y6 papers · 2026
Department of Pediatrics, The Second Nanning People's Hospital, Nanning, 530031, Guangxi, China.
Papers in Europe PMC - 06Chen J5 papers · 2026
Department of Pharmacy, Lu'an Affiliated Hospital of Anhui Medical University & Lu'an People's Hospital, Lu'an, Anhui, China.
Papers in Europe PMC - 07Chen Y5 papers · 2026
Center of Neonatal Disease Screening, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, 362000, Fujian Province, China.
Papers in Europe PMC - 08Han L5 papers · 2025
Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Papers in Europe PMC - 09Li J5 papers · 2026
Department of Pharmacy, Lu'an Affiliated Hospital of Anhui Medical University & Lu'an People's Hospital, Lu'an, Anhui, China.
Papers in Europe PMC - 10Chen T4 papers · 2025
Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
6
interventional trials for this specific condition
6 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).
medium confidence · 89th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
6 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07201714·RECRUITING·Oral Carnitine in Heart Failure Patients
Conditions: Heart Failure · Carnitine Deficiency·Matched via name phrase
Observational and natural-history studies
3 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.
"Systemic primary carnitine deficiency" OR "Carnitine transporter defect" OR "Carnitine uptake deficiency" OR "Deficiency of plasma-membrane carnitine transporter" OR "Deficiency of the plasma-membrane carnitine transporter" OR "Carnitine deficiency" OR "carnitine transporter deficiency" OR "carnitine uptake defect" OR "primary carnitine deficiency" OR "renal carnitine transport defect" OR "systemic primary carnitine deficiency disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Systemic primary carnitine deficiency" OR "Carnitine transporter defect" OR "Carnitine uptake deficiency" OR "Deficiency of plasma-membrane carnitine transporter" OR "Deficiency of the plasma-membrane carnitine transporter" OR "Carnitine deficiency" OR "carnitine transporter deficiency" OR "carnitine uptake defect" OR "primary carnitine deficiency" OR "renal carnitine transport defect" OR "systemic primary carnitine deficiency disease" OR "SLC22A5"
Recall-expansion terms: SLC22A5
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: 6 interventional · 3 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
Synonyms dropped by stoplist: CDSP; CUD; SPCD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 3 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T12:41:37.693Z