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ORPHA:20

3-hydroxy-3-methylglutaric aciduria

high confidenceDisorder

Also known as: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency · HMG-CoA lyase deficiency · Hydroxymethylglutaric aciduria

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

Publications

420

79.8th percentile

Trials

0

Interventional, condition-specific

Researchers

1,508

Distinct authors in sample

Gene link

HMGCL

Definitive

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of decompensation with hypoketotic triggered by periods of fasting or infections.

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 (3)

3-OH 3-Methyl glutaric aciduria · deficiency of hydroxymethylglutaryl-CoA lyase · hydroxymethylglutaryl-CoA lyase 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.

  1. Gene identifiedPresent

    Definitive — HMGCL

  2. LiteraturePresent

    420 matched papers (216 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 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 (HMGCL).

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?

420

420 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.

420 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).

216 in the last 10 years · high confidence · 79.8th percentile (publications denominator)

Phrase hits: 420 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,508

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.

  1. 01
    Wajner M10 papers · 2026

    Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.

    Papers in Europe PMC
  2. 02
    Leipnitz G7 papers · 2026

    Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos N° 2600 - Attached, CEP 90035-003, Alegre Porto, RS, Brazil.

    Papers in Europe PMC
  3. 03
    Wevers RA6 papers · 2024

    Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Geert Groote Plein Zuid 10, 6525, GA, Nijmegen, The Netherlands.

    Papers in Europe PMC
  4. 04
    Adam T5 papers · 2020

    Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacký University and University Hospital in Olomouc, Hněvotínská 5, 775 15, Olomouc, Czech Republic. tomas.adam@fnol.cz.

    Papers in Europe PMC
  5. 05
    Huang X5 papers · 2024

    Technical Support Center, Zhejiang Biosan Biochemical Technologies Co., Ltd, Hangzhou, China.

    Papers in Europe PMC
  6. 06
    Puisac B5 papers · 2019

    Laboratory of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, C/ Domingo Miral s/n, 50009, Zaragoza, Spain.

    Papers in Europe PMC
  7. 07
    Ribes A5 papers · 2021

    Inborn Errors of Metabolism Division, Biochemistry and Molecular Genetics Department, Hospital Clínic, 08028 Barcelona, Spain.

    Papers in Europe PMC
  8. 08
    Vargas CR5 papers · 2019

    Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.

    Papers in Europe PMC
  9. 09
    Fernandes CG4 papers · 2016

    Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.

    Papers in Europe PMC
  10. 10
    Friedecký D4 papers · 2020

    Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacký University and University Hospital in Olomouc, Hněvotínská 5, 775 15, Olomouc, Czech Republic.

    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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Observational and natural-history studies

2 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.

None of the matched observational studies is currently listed as 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

Likely 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.

"3-hydroxy-3-methylglutaric aciduria" OR "3-hydroxy-3-methylglutaryl-CoA lyase deficiency" OR "HMG-CoA lyase deficiency" OR "Hydroxymethylglutaric aciduria" OR "3-OH 3-Methyl glutaric aciduria" OR "deficiency of hydroxymethylglutaryl-CoA lyase" OR "deficiency of the hydroxymethylglutaryl-CoA lyase" OR "hydroxymethylglutaryl-CoA lyase deficiency"

Run this search on Europe PMC

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

"3-hydroxy-3-methylglutaric aciduria" OR "3-hydroxy-3-methylglutaryl-CoA lyase deficiency" OR "HMG-CoA lyase deficiency" OR "Hydroxymethylglutaric aciduria" OR "3-OH 3-Methyl glutaric aciduria" OR "deficiency of hydroxymethylglutaryl-CoA lyase" OR "deficiency of the hydroxymethylglutaryl-CoA lyase" OR "hydroxymethylglutaryl-CoA lyase deficiency" OR "HMGCL" OR "classic organic aciduria" OR "inborn organic aciduria"

Recall-expansion terms: HMGCL, classic organic aciduria, inborn organic aciduria

Study-type breakdown: 0 interventional · 2 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

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 2026-07-26T12:07:24.838Z