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ORPHA:943

Malonic aciduria

medium confidenceDisorder

Also known as: Deficiency of malonyl-CoA decarboxylase · MLYCD deficiency · Malonic acidemia · Malonyl-CoA decarboxylase deficiency

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

355

78th percentile

Trials

0

Interventional, condition-specific

Researchers

1,349

Distinct authors in sample

Gene link

MLYCD

Definitive

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Malonic aciduria is a disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

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 (2)

malonic aciduria · malonyl-CoA decarboxylase 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.”

2/6 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 — MLYCD

  2. LiteraturePresent

    355 matched papers (191 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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 (MLYCD).

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?

355

355 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.

355 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: 355 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,349

Distinct author names in 200 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
    Huang X4 papers · 2025

    Technical Support Center, Zhejiang Biosan Biochemical Technologies Co., Ltd, Hangzhou, Zhejiang Province, China.

    Papers in Europe PMC
  2. 02
    Liu Y4 papers · 2023

    Department of Urology, First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.

    Papers in Europe PMC
  3. 03
    Platis D4 papers · 2026

    Department of Newborn Screening, Institute of Child Health, 11526 Athens, Greece.

    Papers in Europe PMC
  4. 04
    Thorburn DR4 papers · 2003
    Papers in Europe PMC
  5. 05
    Zeng Y4 papers · 2025

    Neonatal Disease Screening Center, The Maternal and Child Health Hospital of Shaoyang City, Shaoyang, China.

    Papers in Europe PMC
  6. 06
    FitzPatrick DR3 papers · 2003

    Human and Clinical Genetics Units, Molecular Medicine Centre, Western General Hospital, Edinburgh EH4 2XU, UK. david.fitzpatrick@ed.ac.uk

    Papers in Europe PMC
  7. 07
    Gu X3 papers · 2020

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

    Papers in Europe PMC
  8. 08
    Han L3 papers · 2022

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

    Papers in Europe PMC
  9. 09
    Li L3 papers · 2020

    Center for Reproductive Medicine and Center for Prenatal Diagnosis, The First Hospital, Jilin University, Changchun, Jilin 130021, P.R. China.

    Papers in Europe PMC
  10. 10
    Li X3 papers · 2021

    Department of Endocrinology and Metabolisms, Guangzhou Women and Children’s Medical Center, Guangzhou, Guangdong, China

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

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.

medium 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

Likely covered — the policy lists Organic acidemia as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. 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.

"Malonic aciduria" OR "Deficiency of malonyl-CoA decarboxylase" OR "Deficiency of the malonyl-CoA decarboxylase" OR "MLYCD deficiency" OR "Malonic acidemia" OR "Malonyl-CoA decarboxylase deficiency"

Run this search on Europe PMC

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

"Malonic aciduria" OR "Deficiency of malonyl-CoA decarboxylase" OR "Deficiency of the malonyl-CoA decarboxylase" OR "MLYCD deficiency" OR "Malonic acidemia" OR "Malonyl-CoA decarboxylase deficiency" OR "MLYCD" OR "inborn organic aciduria"

Recall-expansion terms: MLYCD, inborn organic aciduria

Study-type breakdown: 0 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

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 (355) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-26T15:58:49.737Z