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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

Publications

5,048

91.6th percentile

Trials

4

Interventional, condition-specific

Researchers

1,337

Distinct authors in sample

Gene link

BCKDHA, BCKDHB, DBT

Definitive

Readiness

6/6

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.”

6/6 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

    5,048 matched papers (2,650 in last 10 years) Source

  3. Phenotype characterisedPresent

    97 HPO annotations (e.g. Neurodevelopmental delay; Feeding difficulties; Microcephaly) Source

  4. Animal modelPresent

    7 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPresent

    1 FDA · 2 EMA designations (1 FDA orphan-indication approval) — e.g. sodium phenylbutyrate Source

  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)

97

Associated phenotypes · MONDO:0009563

  • Neurodevelopmental delay
  • Feeding difficulties
  • Microcephaly
  • Hyperammonemia
  • Muscle spasm

Showing 5 of 97 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

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)

3

Designations · 1 with FDA orphan-indication approval

  • FDA sodium phenylbutyrateMaple Syrup Urine Disease · 2014-08-19 · Not FDA Approved for Orphan Indication
  • EMA glycine;L-alanine;L-arginine;L-aspartic acid;L-cysteine;L-glutamic acid;L-histidine;L-lysine monohydrate;L-methionine;L-phenylalanine;L-proline;L-serine;L-threonine;L-tryptophan;L-tyrosine;taurine (Maapliv)Treatment of maple syrup urine disease · 26/10/2018 · PositiveEMA designation
  • EMA sodium phenylbutyrateTreatment of maple syrup urine disease · 18/07/2022 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0009563

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

5,048

5,048 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.

5,048 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).

2,650 in the last 10 years · medium confidence · 91.6th 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 11 September 2026 · last trial check 28 July 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

medium confidence · 88.1th 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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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 (1)

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 Maple syrup urine disease — check Associations / patient organisations on that page.

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") OR ("BCKDHA" OR "BCKDHA syndrome" OR "BCKDHA-related" OR "BCKDHB" OR "BCKDHB syndrome" OR "BCKDHB-related" OR "DBT syndrome" OR "DBT-related")

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"

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: ok — strategies attempted: phrase; 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