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ORPHA:511

Maple syrup urine disease

medium confidenceDisorder

Also known as: BCKD deficiency · BCKDH deficiency · Branched-chain 2-ketoacid dehydrogenase deficiency · Branched-chain ketoaciduria · MSUD

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

Publications

3,796

95th percentile

Trials

4

Interventional, condition-specific

Researchers

1,337

Distinct authors in sample

Gene link

BCKDHA, BCKDHB, DBT

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine-responsive MSUD.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

Ketoacidaemia · branched chain ketoaciduria · branched-chain 2-ketoacid dehydrogenase deficiency · branched-chain ketoaciduria · maple syrup urine 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.

  1. Gene identifiedPresent

    Definitive — BCKDHA, BCKDHB, DBT

  2. LiteraturePresent

    3,796 matched papers (1,676 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 trialPresent

    4 matched on ClinicalTrials.gov (2 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 (BCKDHA, BCKDHB, DBT).

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?

3,796

3,796 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.

3,796 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).

1,676 in the last 10 years · medium confidence · 95th percentile (publications denominator)

Phrase hits: 3,796 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,337

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
    Streck EL5 papers · 2025

    Laboratório de Doenças Neurometabólicas, Programa de Pós-graduação em Ciências da Saúde, Universidade do Extremo Sul Catarinense, Criciúma, SC, 88806-000, Brasil. emiliostreck@gmail.com.

    Papers in Europe PMC
  2. 02
    Alano CG4 papers · 2025

    Laboratório de Psiquiatria Translacional, Programa de Pós-graduação em Ciências da Saúde, Universidade do Extremo Sul Catarinense, Criciúma, SC, 88806-000, Brasil.

    Papers in Europe PMC
  3. 03
    Arnoux JB4 papers · 2026

    Necker Hospital, APHP, Reference Center for Inborn Error of Metabolism, Pediatrics Department, University Paris Cité, Paris, France.

    Papers in Europe PMC
  4. 04
    Effting PS4 papers · 2025

    Laboratório de Doenças Neurometabólicas, Programa de Pós-graduação em Ciências da Saúde, Universidade do Extremo Sul Catarinense, Criciúma, SC, 88806-000, Brasil.

    Papers in Europe PMC
  5. 05
    Leipnitz G4 papers · 2026

    Departamento de Bioquímica, Universidade Federal Do Rio Grande Sul, Porto Alegre, RS, 90035-003, Brasil.

    Papers in Europe PMC
  6. 06
    MacDonald A4 papers · 2026

    Steelhouse Lane, Birmingham, B4 6NH UK

    Papers in Europe PMC
  7. 07
    Tosi M4 papers · 2026

    Department of Health Sciences, University of Milan, 20142 Milan, Italy.

    Papers in Europe PMC
  8. 08
    Ahrens-Nicklas RC3 papers · 2025

    Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, 3615 Civic Center Blvd., Philadelphia, PA 19104, United States.

    Papers in Europe PMC
  9. 09
    Al Qahtani M3 papers · 2025

    Organ Transplant Center of Excellence, King Fahad Specialist Hospital, Dammam, Saudi Arabia.

    Papers in Europe PMC
  10. 10
    Bader R3 papers · 2025

    Organ Transplant Center of Excellence, King Fahad Specialist Hospital, Dammam, Saudi Arabia.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).

medium confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

7 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.

Recruiting or not-yet-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

Directly listed under NPRD Groups 1 and 2.

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

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.

"Maple syrup urine disease" OR "BCKD deficiency" OR "BCKDH deficiency" OR "Branched-chain 2-ketoacid dehydrogenase deficiency" OR "Branched-chain ketoaciduria" OR "Ketoacidaemia" OR "branched chain ketoaciduria"

Run this search on Europe PMC

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

"Maple syrup urine disease" OR "BCKD deficiency" OR "BCKDH deficiency" OR "Branched-chain 2-ketoacid dehydrogenase deficiency" OR "Branched-chain ketoaciduria" OR "Ketoacidaemia" OR "branched chain ketoaciduria" OR "BCKDHA" OR "BCKDHB" OR "DBT"

Recall-expansion terms: BCKDHA, BCKDHB, DBT

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: 4 interventional · 7 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: MSUD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:07:21.589Z