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ORPHA:79282

Methylmalonic acidemia with homocystinuria, type cblC

low confidenceSubtype of disorder

Also known as: CblC defect · Cobalamin C defect · Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC · Methylmalonic aciduria with homocystinuria, type cblC

Publications

9,026

Trials

1

Interventional, condition-specific

Researchers

1,362

Distinct authors in sample

Gene link

MMACHC, PRDX1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, , , intellectual deficit and .

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

cblC defect · cobalamin C defect · cobalamin c disease · combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC · methylmalonic aciduria and homocystinuria type cblC · methylmalonic aciduria with homocystinuria, type cblC

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — MMACHC, PRDX1

  2. LiteraturePresent

    9,026 matched papers (6,233 in last 10 years) Source

  3. Phenotype characterisedPresent

    134 HPO annotations (e.g. Methylmalonic acidemia; Methylmalonic aciduria; Elevated circulating palmitoleylcarnitine concentration) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationNot found

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

  6. 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 (MMACHC, PRDX1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

134

Associated phenotypes · MONDO:0010184

  • Methylmalonic acidemia
  • Methylmalonic aciduria
  • Elevated circulating palmitoleylcarnitine concentration
  • Glossitis
  • Optic atrophy

Showing 5 of 134 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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

1

Drugs / clinical candidates · MONDO_0010184

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

9,026

9,026 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

9,026 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).

6,233 in the last 10 years · low confidence

Phrase hits: 259 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,362

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.

  1. 01
    Dionisi-Vici C14 papers · 2025

    Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy.

    Papers in Europe PMC
  2. 02
    Huemer M11 papers · 2024

    Department of Pediatrics, Landeskrankenhaus, Feldkirch, Austria. martina.huemer@lkhf.at

    Papers in Europe PMC
  3. 03
    Martinelli D9 papers · 2025

    Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.

    Papers in Europe PMC
  4. 04
    Han L8 papers · 2024

    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

    Papers in Europe PMC
  5. 05
    Liu Y8 papers · 2024

    Department of Pediatric Cardiology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

    Papers in Europe PMC
  6. 06
    Zhang Y8 papers · 2025

    Department of Pediatrics, Peking University First Hospital, Beijing, China.

    Papers in Europe PMC
  7. 07
    Baumgartner MR7 papers · 2024

    Division of Metabolism and Children's Research Center, University Children's Hospital of Zurich, University of Zurich, 8032 Zurich, Switzerland.

    Papers in Europe PMC
  8. 08
    Fowler B7 papers · 2016

    Division of Metabolic Diseases and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland. Brian.fowler@kispi.uzh.ch.

    Papers in Europe PMC
  9. 09
    Liu X7 papers · 2025

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

    Papers in Europe PMC
  10. 10
    Zhang H7 papers · 2024

    Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

    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. 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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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.

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

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Methylmalonic acidemia with homocystinuria, type cblC — 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.

("Methylmalonic acidemia with homocystinuria, type cblC" OR "CblC defect" OR "Cobalamin C defect" OR "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC" OR "Methylmalonic aciduria with homocystinuria, type cblC" OR "cobalamin c disease" OR "methylmalonic aciduria and homocystinuria type cblC") OR ("MMACHC" OR "MMACHC syndrome" OR "MMACHC-related" OR "PRDX1" OR "PRDX1 syndrome" OR "PRDX1-related")

Run this search on Europe PMC

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

"Methylmalonic acidemia with homocystinuria, type cblC" OR "CblC defect" OR "Cobalamin C defect" OR "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC" OR "Methylmalonic aciduria with homocystinuria, type cblC" OR "cobalamin c disease" OR "methylmalonic aciduria and homocystinuria type cblC"

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 · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"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 (9026) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T02:12:39.753Z