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ORPHA:268184

Thiamine-responsive maple syrup urine disease

high confidenceSubtype of disorder

Also known as: Thiamine-responsive BCKD deficiency · Thiamine-responsive MSUD · Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency

Publications

42

36.4th percentile

Trials

0

Interventional, condition-specific

Researchers

239

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a similar to intermediate MSUD but that responds positively to treatment with thiamine.

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 (5)

thiamine-responsive BCKD deficiency · thiamine-responsive MSUD · thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency · thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency · thiamine-responsive 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.”

2/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    42 matched papers (19 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 trialPartial

    None under the specific name; 4 for broader category maple syrup urine disease

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

42

42 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.

42 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).

19 in the last 10 years · high confidence · 36.4th percentile (publications denominator)

Phrase hits: 42 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

239

Distinct author names in 42 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
    Chuang DT5 papers · 1997

    Department of Biochemistry, University of Texas, Southwestern Medical Center, Dallas 75235.

    Papers in Europe PMC
  2. 02
    Cox RP5 papers · 1997
    Papers in Europe PMC
  3. 03
    Wynn RM3 papers · 1995
    Papers in Europe PMC
  4. 04
    Berger SI2 papers · 2025

    Children's National Rare Disease Institute, Washington, District of Columbia, USA.

    Papers in Europe PMC
  5. 05
    Chuang JL2 papers · 1997

    Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas 75235.

    Papers in Europe PMC
  6. 06
    Crabb DW2 papers · 1990
    Papers in Europe PMC
  7. 07
    Fisher CW2 papers · 1991

    Department of Biochemistry, University of Texas, Southwestern Medical School, Dallas 75235.

    Papers in Europe PMC
  8. 08
    Giulivi C2 papers · 2024

    Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, Davis, CA, United States.

    Papers in Europe PMC
  9. 09
    Harris RA2 papers · 1990
    Papers in Europe PMC
  10. 10
    Lau KS2 papers · 1991
    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 4 trials are registered for maple syrup urine disease, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

high 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.

4 interventional trials matched maple syrup urine disease, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: maple syrup urine disease

4

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

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 Maple syrup urine disease (MSUD) as a category (Groups 1 and 2), 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

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.

"Thiamine-responsive maple syrup urine disease" OR "Thiamine-responsive BCKD deficiency" OR "Thiamine-responsive MSUD" OR "Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency" OR "thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency"

Run this search on Europe PMC

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

"Thiamine-responsive maple syrup urine disease" OR "Thiamine-responsive BCKD deficiency" OR "Thiamine-responsive MSUD" OR "Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency" OR "thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency"

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

Parent-category trials query:

"maple syrup urine disease"

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

Ingested 2026-07-27T11:28:50.529Z