ORPHA:369955
Methylmalonic acidemia with homocystinuria, type cblJ
Also known as: CblJ defects · Cobalamin J defect · Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ · Methylmalonic aciduria with homocystinuria, type cblJ
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
10
19.9th percentile
Trials
0
Interventional, condition-specific
Researchers
129
Distinct authors in sample
Gene link
ABCD4
Strong
Readiness
3/6
Stages with a signal
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:0013925
- OMIM:614857
- UMLS:C3553915
Additional Mondo synonyms (4)
cblJ defects · cobalamin J defect · combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ · methylmalonic aciduria with homocystinuria, type cblJ
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — ABCD4
- LiteraturePresent
10 matched papers (5 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 trialPartial
None under the specific name; 15 for broader category methylmalonic acidemia
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 (ABCD4).
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?
10
10 papers have ever been indexed 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.
10 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).
5 in the last 10 years · high confidence · 19.9th percentile (publications denominator)
Phrase hits: 10 · MeSH hits: 0
Who's working on it?
129
Distinct author names in 10 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.
- 01Baumgartner MR5 papers · 2019
Division of Metabolism and Children’s Research Centre, University Children’s Hospital Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland
Papers in Europe PMC - 02Huemer M5 papers · 2019
Division of Metabolism and Children’s Research Centre, University Children’s Hospital Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland
Papers in Europe PMC - 03Dionisi-Vici C3 papers · 2019
Division of Metabolism, Bambino Gesù Children’s Research Hospital, Piazza S. Onofrio 4, Rome, 00165 Italy
Papers in Europe PMC - 04Kožich V3 papers · 2019
Institute of Inherited Metabolic Disorders, Charles University-First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Papers in Europe PMC - 05Ballhausen D2 papers · 2019
Centre for Molecular Diseases, University Children’s Hospital, Avenue Pierre Decker 2, Lausanne, 1011 Switzerland
Papers in Europe PMC - 06Blom H2 papers · 2019
Laboratory of Clinical Biochemistry and Metabolism, Center for Pediatrics and Adolescent Medicine University Hospital, Freiburg, Freiburg, Germany.
Papers in Europe PMC - 07Burlina A2 papers · 2017
Department of Pediatrics, University of Padua, Via Giustiniani 3, Padova, 35128 Italy
Papers in Europe PMC - 08Cerone R2 papers · 2019
University Dept of Pediatrics, Giannina Gaslini Institute, Genoa, Italy.
Papers in Europe PMC - 09Chapman KA2 papers · 2019
Section of Genetics and Metabolism, Children’s National Health System, Washington DC, USA
Papers in Europe PMC - 10Couce ML2 papers · 2019
Congenital Metabolic Diseases Unit, Hospital Clínico Universitario de Santiago de Compostela, IDIS, CIBER, Compostela, Spain.
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). 15 trials are registered for methylmalonic acidemia, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
15 interventional trials matched methylmalonic acidemia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: methylmalonic acidemia
15
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT05295433·RECRUITING·An Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in Other Clinical Studies of mRNA-3705
Conditions: Methylmalonic Acidemia·Matched via name phrase
- NCT07163364·NOT YET RECRUITING·A Study to Evaluate the Effects and Safety of Hydroxocobalamin in Participants With Combined Methylmalonic Academia (cblC Type)
Conditions: Methylmalonic Acidemia (MMA)·Matched via name phrase
- NCT06664840·NOT YET RECRUITING·MyRareDiet A Novel Diet Tracking Tool
Conditions: Urea Cycle Disorder · Propionic Aciduria · Maple Syrup Urine Disease · Methylmalonic Acidemia·Matched via name phrase
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 2026-07-26Likely covered — the policy lists Methylmalonic acidemia as a category (Group 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 2 — long-term / lifelong lower-cost interventions
NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.
Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
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.
"Methylmalonic acidemia with homocystinuria, type cblJ" OR "CblJ defects" OR "Cobalamin J defect" OR "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ" OR "Methylmalonic aciduria with homocystinuria, type cblJ"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Methylmalonic acidemia with homocystinuria, type cblJ" OR "CblJ defects" OR "Cobalamin J defect" OR "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ" OR "Methylmalonic aciduria with homocystinuria, type cblJ" OR "ABCD4"
Recall-expansion terms: ABCD4
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"methylmalonic acidemia"
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
Ingested 2026-07-27T14:51:21.990Z