ORPHA:268173
Intermittent maple syrup urine disease
Also known as: Intermittent BCKD deficiency · Intermittent MSUD · Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency
Publications
56
43.1th percentile
Trials
0
Interventional, condition-specific
Researchers
363
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017053
- UMLS:C0268569
Additional Mondo synonyms (5)
intermittent BCKD deficiency · intermittent MSUD · intermittent branched-chain 2-ketoacid dehydrogenase deficiency · intermittent branched-chain alpha-ketoacid dehydrogenase deficiency · intermittent 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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
56 matched papers (29 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
56
56 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.
56 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).
29 in the last 10 years · high confidence · 43.1th percentile (publications denominator)
Phrase hits: 56 · MeSH hits: 0
Who's working on it?
363
Distinct author names in 56 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.
- 01Gompertz D3 papers · 1973Papers in Europe PMC
- 02Lund AM3 papers · 2021
Center for Inherited Metabolic Disorders, Departments of Clinical Genetics and Pediatrics, Copenhagen University Hospital, 2100 Copenhagen, Denmark.
Papers in Europe PMC - 03Lynch CJ3 papers · 2014
Cellular and Molecular Physiology Department, The Pennsylvania State University, 500 University Drive, MC-H166, Hershey, PA 17033, USA.
Papers in Europe PMC - 04Abacan MAR2 papers · 2025
Institute of Human Genetics, National Institutes of Health University of the Philippines Manila Philippines.
Papers in Europe PMC - 05Bartlett K2 papers · 1988Papers in Europe PMC
- 06Bliksrud YT2 papers · 2023
Norwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway; catsal@ous-hf.no (C.L.S.); bwoldset@ous-hf.no (B.W.); ybliksru@ous-hf.no (Y.T.B.).
Papers in Europe PMC - 07Eide L2 papers · 2023
Department of Medical Biochemistry Oslo University Hospital Oslo Norway.
Papers in Europe PMC - 08Indo Y2 papers · 1998Papers in Europe PMC
- 09Kristensen E2 papers · 2023
Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Papers in Europe PMC - 10Matsuda I2 papers · 1998Papers 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
- NCT06581991·NOT YET RECRUITING·Liquid Valine and Isoleucine in Maple Syrup Urine Disease
Conditions: Maple Syrup Urine Disease·Matched via name phrase
- NCT06664840·NOT YET RECRUITING·MyRareDiet A Novel Diet Tracking Tool
Conditions: Urea Cycle Disorder · Propionic Aciduria · Maple Syrup Urine Disease · Methylmalonic Acidemia·Matched via name phrase
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 2026-07-26Likely 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.
"Intermittent maple syrup urine disease" OR "Intermittent BCKD deficiency" OR "Intermittent MSUD" OR "Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency" OR "intermittent branched-chain 2-ketoacid dehydrogenase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Intermittent maple syrup urine disease" OR "Intermittent BCKD deficiency" OR "Intermittent MSUD" OR "Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency" OR "intermittent 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 2026-07-27T11:28:43.492Z