RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:470

Lysinuric protein intolerance

low confidenceDisorder

Also known as: Hyperdibasic aminoaciduria · LPI

Publications

2,221

Trials

0

Interventional, condition-specific

Researchers

1,243

Distinct authors in sample

Gene link

SLC7A7

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder of amino acid absorption and transport characterized by a secondary urea cycle disorder with , , and a wide range of clinical manifestations including hematological (macrophagic activation syndrome or hemophagocytic lymphohistiocytosis, HLH), immune, digestive, renal, pulmonary and/or bones involvement.

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)

hyperdibasic aminoaciduria · hyperdibasic aminoaciduria type 2 · lysinuric protein intolerance

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.”

5/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — SLC7A7

  2. LiteraturePresent

    2,221 matched papers (1,540 in last 10 years) Source

  3. Phenotype characterisedPresent

    117 HPO annotations (e.g. Glomerulonephritis; Nephrocalcinosis; Renal tubular dysfunction) Source

  4. Animal modelPresent

    3 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. sodium benzoate Source

  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 (SLC7A7).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

117

Associated phenotypes · MONDO:0009109

  • Glomerulonephritis
  • Nephrocalcinosis
  • Renal tubular dysfunction
  • Hematuria
  • Hepatic failure

Showing 5 of 117 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

1

Designation · no FDA orphan-indication approval yet

  • EMA sodium benzoate (Prohippur)Treatment of lysinuric protein intolerance · 29/08/2016 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,221

2,221 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=3967) is 59.

2,221 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,540 in the last 10 years · low confidence

Phrase hits: 731 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,243

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
    Niinikoski H7 papers · 2025

    Department of Pediatrics, Turku University Hospital and University of Turku, Turku, Finland.

    Papers in Europe PMC
  2. 02
    Brassier A6 papers · 2026

    Department of Metabolic Diseases, APHP Necker Enfants-Malades Hospital, Paris, France.

    Papers in Europe PMC
  3. 03
    Chen Y5 papers · 2025

    The Second Department of Pediatrics, Affiliated Hospital of Zunyi Medical University, Zunyi, China.

    Papers in Europe PMC
  4. 04
    De Lonlay P5 papers · 2026

    Department of Metabolic Diseases, APHP Necker Enfants-Malades Hospital, Paris, France.

    Papers in Europe PMC
  5. 05
    Dionisi-Vici C5 papers · 2025

    Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

    Papers in Europe PMC
  6. 06
    Siri B5 papers · 2025

    Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

    Papers in Europe PMC
  7. 07
    Burrage LC4 papers · 2023

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.

    Papers in Europe PMC
  8. 08
    Liu Y4 papers · 2025

    School of Food and Biological Engineering, Jiangsu University, No. 301, Xuefu Road, Zhenjiang 212013, China.

    Papers in Europe PMC
  9. 09
    wang x4 papers · 2025

    School of Food and Biological Engineering, Jiangsu University, No. 301, Xuefu Road, Zhenjiang 212013, China.

    Papers in Europe PMC
  10. 10
    Wang Y4 papers · 2025

    Department of Pediatrics, Xijing Hospital, The Fourth Military Medical University, Xi'an, 710032, 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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

1 observational study matches 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Lysinuric protein intolerance — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

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.

("Lysinuric protein intolerance" OR "Hyperdibasic aminoaciduria" OR "hyperdibasic aminoaciduria type 2") OR ("SLC7A7" OR "SLC7A7 syndrome" OR "SLC7A7-related")

Run this search on Europe PMC

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

"Lysinuric protein intolerance" OR "Hyperdibasic aminoaciduria" OR "hyperdibasic aminoaciduria type 2"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: LPI

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2221) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:56:29.797Z