ORPHA:88639
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Also known as: HIBCH deficiency · Methacrylic aciduria · Valine metabolic defect
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
452
82.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,472
Distinct authors in sample
Gene link
HIBCH
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, and neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009603
- MeSH:C562803
- OMIM:250620
- UMLS:C0342738
Additional Mondo synonyms (3)
3-hydroxyisobutyryl-CoA hydrolase deficiency · methacrylic aciduria · neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase 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.
- Gene identifiedPresent
Definitive — HIBCH
- LiteraturePresent
452 matched papers (263 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 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 (HIBCH).
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?
452
452 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.
452 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).
263 in the last 10 years · medium confidence · 82.7th percentile (publications denominator)
Phrase hits: 452 · MeSH hits: 0
Who's working on it?
1,472
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.
- 01Ferdinandusse S9 papers · 2021
Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.
Papers in Europe PMC - 02Wang Y8 papers · 2025
Genetic and Genomic Medicine Division, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh.
Papers in Europe PMC - 03Li X5 papers · 2026
Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Translational Medical Research in Cognitive Development and Learning and Memory Disorders, Chongqing, China.
Papers in Europe PMC - 04Liu Z5 papers · 2022
Department of Pediatric Neurology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & and Technology, Wuhan, 430016, China.
Papers in Europe PMC - 05Wanders RJ5 papers · 2016
Department of Clinical Chemistry and Pediatrics, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.
Papers in Europe PMC - 06Yang X5 papers · 2025
Department of General Practice, The First Affiliated Hospital of Guangxi Medical University, Guangxi Medical University, Nanning, China.
Papers in Europe PMC - 07Chen Y4 papers · 2025
Center of Neonatal Disease Screening, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province, 362000, China.
Papers in Europe PMC - 08Murayama K4 papers · 2021
Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
Papers in Europe PMC - 09Pitt J4 papers · 2020
Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.
Papers in Europe PMC - 10Wang J4 papers · 2024
Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
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.
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 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.
"Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency" OR "HIBCH deficiency" OR "Methacrylic aciduria" OR "Valine metabolic defect" OR "3-hydroxyisobutyryl-CoA hydrolase deficiency"
MeSH descriptor terms unioned into the query: Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency" OR "HIBCH deficiency" OR "Methacrylic aciduria" OR "Valine metabolic defect" OR "3-hydroxyisobutyryl-CoA hydrolase deficiency" OR "Beta-Hydroxyisobutyryl CoA Deacylase Deficiency" OR "HIBCH"
Recall-expansion terms: HIBCH
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, 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 (452) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T03:24:12.710Z