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ORPHA:882

Tyrosinemia type 1

high confidenceDisorder

Also known as: FAH deficiency · Fumarylacetoacetase deficiency · Fumarylacetoacetate hydrolase deficiency · Hepatorenal tyrosinemia · Tyrosinemia type I

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

Publications

2,450

94.3th percentile

Trials

8

Interventional, condition-specific

Researchers

1,336

Distinct authors in sample

Gene link

FAH

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare inborn error of tyrosine catabolism characterized by liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.

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 (6)

Tyrosinemia Type 1 · fumarylacetoacetase deficiency · fumarylacetoacetate hydrolase deficiency · hepatorenal tyrosinemia · type I tyrosinemia · tyrosinemia type I

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — FAH

  2. LiteraturePresent

    2,450 matched papers (1,405 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 trialPresent

    8 matched on ClinicalTrials.gov

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 (FAH).

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?

2,450

2,450 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

2,450 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).

1,405 in the last 10 years · high confidence · 94.3th percentile (publications denominator)

Phrase hits: 2,450 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,336

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
    Heiner-Fokkema MR9 papers · 2025

    Laboratory of Metabolic diseases, Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

    Papers in Europe PMC
  2. 02
    van Spronsen FJ8 papers · 2025

    Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

    Papers in Europe PMC
  3. 03
    Cyr D6 papers · 2026

    Medical Genetics Service, Department of Laboratory Medicine, CHU Sherbrooke and Department of Pediatrics, Université de Sherbrooke, Sherbrooke, Québec, Canada.

    Papers in Europe PMC
  4. 04
    Wang X6 papers · 2026

    Department of Biobank, Dalian Public Health Clinical Center, Dalian, 116001, People's Republic of China.

    Papers in Europe PMC
  5. 05
    Bouva MJ5 papers · 2025

    Center for Health Protection, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands.

    Papers in Europe PMC
  6. 06
    Wang Y5 papers · 2026

    Department of Pediatrics, The Second Nanning People's Hospital, Nanning, 530031, Guangxi, China.

    Papers in Europe PMC
  7. 07
    Waters PJ5 papers · 2026

    Medical Genetics Service, Department of Laboratory Medicine, CHU Sherbrooke and Department of Pediatrics, Université de Sherbrooke, Sherbrooke, Québec, Canada.

    Papers in Europe PMC
  8. 08
    Zhang Y5 papers · 2025

    Research and Development Center, Zhejiang Biosan Biochemical Technologies Co., Ltd., Hangzhou, China.

    Papers in Europe PMC
  9. 09
    Boelen A4 papers · 2025

    Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

    Papers in Europe PMC
  10. 10
    Chen P4 papers · 2026

    Department of Preventive Health Care, Shenzhen Guangming Maternity and Child Care Hospital, Shenzhen, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; none in our sample are currently recruiting. 4 trials are registered for tyrosinemia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

8 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 90.6th percentile).

high confidence · 90.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

8 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: tyrosinemia

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

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.

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

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.

"Tyrosinemia type 1" OR "FAH deficiency" OR "Fumarylacetoacetase deficiency" OR "Fumarylacetoacetate hydrolase deficiency" OR "Hepatorenal tyrosinemia" OR "Tyrosinemia type I" OR "type I tyrosinemia"

Run this search on Europe PMC

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

"Tyrosinemia type 1" OR "FAH deficiency" OR "Fumarylacetoacetase deficiency" OR "Fumarylacetoacetate hydrolase deficiency" OR "Hepatorenal tyrosinemia" OR "Tyrosinemia type I" OR "type I tyrosinemia" OR "FAH"

Recall-expansion terms: FAH

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: 8 interventional · 7 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"tyrosinemia"

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 2026-07-26T15:44:31.994Z