RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:79310

Vitamin B12-responsive methylmalonic acidemia type cblA

low confidenceSubtype of disorder

Also known as: Vitamin B12-responsive methylmalonic aciduria type cblA

Publications

1,036

Trials

0

Interventional, condition-specific

Researchers

1,025

Distinct authors in sample

Gene link

MMAA

Definitive

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (10)

Methylmalonic aciduria, vitamin B12-responsive, cblA type · cobalamin A disease · cobalamin B disease · methylmalonic acidemia cblA type · methylmalonic acidemia, cblA type · methylmalonic aciduria cblA type · methylmalonic aciduria, cblA type · methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type · vitamin B12-responsive methylmalonic acidemia type cblA · vitamin B12-responsive methylmalonic aciduria type cblA

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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — MMAA

  2. LiteraturePresent

    1,036 matched papers (684 in last 10 years) Source

  3. Phenotype characterisedPresent

    31 HPO annotations (e.g. Seizure; Decreased methylmalonyl-CoA mutase activity; Ketonuria) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (MMAA).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

31

Associated phenotypes · MONDO:0009613

  • Seizure
  • Decreased methylmalonyl-CoA mutase activity
  • Ketonuria
  • Failure to thrive
  • Hyperammonemia

Showing 5 of 31 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,036

1,036 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=3967) is 59.

1,036 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

684 in the last 10 years · low confidence

Phrase hits: 171 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,025

Distinct author names in 171 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.

  1. 01
    Ferreira CR5 papers · 2023

    Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA.

    Papers in Europe PMC
  2. 02
    Liu X5 papers · 2025

    Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China. 18940251973@163.com.

    Papers in Europe PMC
  3. 03
    Venditti CP5 papers · 2016

    Organic Acid Research Section, Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

    Papers in Europe PMC
  4. 04
    Kölker S4 papers · 2023

    Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Heidelberg, Germany.

    Papers in Europe PMC
  5. 05
    Rosenblatt DS4 papers · 2024

    Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.

    Papers in Europe PMC
  6. 06
    van Karnebeek CDM4 papers · 2024

    Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.

    Papers in Europe PMC
  7. 07
    Benoist JF3 papers · 2014

    Department of Biochemistry and Hormonology, Robert Debré Hospital, Paris, France.

    Papers in Europe PMC
  8. 08
    Carducci C3 papers · 2025

    Department of Experimental Medicine, Sapienza University of Rome, 00185 Rome, Italy.

    Papers in Europe PMC
  9. 09
    Ficicioglu C3 papers · 2019

    Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

    Papers in Europe PMC
  10. 10
    Gahl WA3 papers · 2020

    Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

Broader category vitamin B12-responsive methylmalonic acidemia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: vitamin B12-responsive methylmalonic acidemia

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

Observational and natural-history studies

1 observational study matches 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.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (2)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Vitamin B12-responsive methylmalonic acidemia type cblA — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely 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.

("Vitamin B12-responsive methylmalonic acidemia type cblA" OR "Vitamin B12-responsive methylmalonic aciduria type cblA" OR "Methylmalonic aciduria, vitamin B12-responsive, cblA type" OR "cobalamin A disease" OR "cobalamin B disease" OR "methylmalonic acidemia cblA type" OR "methylmalonic acidemia, cblA type" OR "methylmalonic aciduria cblA type" OR "methylmalonic aciduria, cblA type" OR "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type" OR "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of the adenosylcobalamin cblA type") OR ("MMAA" OR "MMAA syndrome" OR "MMAA-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Vitamin B12-responsive methylmalonic acidemia type cblA" OR "Vitamin B12-responsive methylmalonic aciduria type cblA" OR "Methylmalonic aciduria, vitamin B12-responsive, cblA type" OR "cobalamin A disease" OR "cobalamin B disease" OR "methylmalonic acidemia cblA type" OR "methylmalonic acidemia, cblA type" OR "methylmalonic aciduria cblA type" OR "methylmalonic aciduria, cblA type" OR "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type" OR "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of the adenosylcobalamin cblA type"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"vitamin B12-responsive methylmalonic acidemia"

Query health: ok — strategies attempted: phrase; 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 (1036) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T02:15:10.129Z