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ORPHA:23

Argininosuccinic aciduria

high confidenceDisorder

Also known as: ASA deficiency · ASL deficiency · Argininosuccinase deficiency · Argininosuccinatelyase deficiency · Argininosuccinic acid lyase deficiency

Publications

1,035

82.9th percentile

Trials

3

Interventional, condition-specific

Researchers

1,415

Distinct authors in sample

Gene link

ASL

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic disorder of urea cycle metabolism typically characterized by either a severe, -onset form that manifests with accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms that manifest with stress- or infection-induced episodic or, in some, behavioral abnormalities and/or learning disabilities, or chronic liver disease. Patients often manifest liver dysfunction.

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 (4)

argininosuccinase deficiency · argininosuccinatelyase deficiency · argininosuccinic acid lyase deficiency · argininosuccinic aciduria

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — ASL

  2. LiteraturePresent

    1,035 matched papers (478 in last 10 years) Source

  3. Phenotype characterisedPresent

    78 HPO annotations (e.g. Ataxia; Hepatomegaly; Hypoargininemia) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    8 EMA designations (none yet with FDA orphan-indication approval) — e.g. sodium benzoate;sodium phenylacetate Source

  6. Interventional trialPresent

    3 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 (ASL).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

78

Associated phenotypes · MONDO:0008815

  • Ataxia
  • Hepatomegaly
  • Hypoargininemia
  • Respiratory alkalosis
  • Seizure

Showing 5 of 78 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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)

8

Designations · no FDA orphan-indication approval yet

  • EMA sodium benzoate;sodium phenylacetateTreatment of argininosuccinic aciduria · 28/06/2019 · PositiveEMA designation
  • EMA sodium benzoate (Prohippur)Treatment of argininosuccinic aciduria · 18/11/2016 · PositiveEMA designation
  • EMA human heterologous liver cells (Heparesc)Treatment of argininosuccinic aciduria · 17/12/2010 · PositiveEMA designation
  • EMA heterologous human adult liver-derived progenitor cellsTreatment of argininosuccinic aciduria · 17/07/2013 · PositiveEMA designation
  • EMA heterologous human adult liver-derived stem cellsTreatment of argininosuccinic aciduria · 16/03/2022 · PositiveEMA designation
  • EMA modified messenger ribonucleic acid encoding human argininosuccinate lyase enzyme encapsulated into lipid nanoparticlesTreatment of argininosuccinic aciduria · 12/12/2017 · PositiveEMA designation
  • EMA sodium benzoateTreatment of argininosuccinic aciduria · 11/01/2016 · PositiveEMA designation
  • EMA Glyceryl tri-(4-phenylbutyrate) (Ravicti)Treatment of argininosuccinic aciduria · 10/06/2010 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0008815

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,035

1,035 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.

1,035 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).

478 in the last 10 years · high confidence · 82.9th percentile (publications denominator)

Phrase hits: 992 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,415

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
    Baruteau J19 papers · 2026

    Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK.

    Papers in Europe PMC
  2. 02
    Gissen P11 papers · 2024

    Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK.

    Papers in Europe PMC
  3. 03
    Nagamani SCS10 papers · 2026

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

    Papers in Europe PMC
  4. 04
    Gurung S9 papers · 2026

    Genetics and Genomic Medicine, University College London Great Ormond Street Institute of Child Health, London, UK.

    Papers in Europe PMC
  5. 05
    Dionisi-Vici C8 papers · 2025

    Ospedale Pediatrico Bambino Gésu, U.O.C. Patologia Metabolica, Rome, Italy.

    Papers in Europe PMC
  6. 06
    Erez A8 papers · 2021

    Department of Molecular and Human, Genetics at Baylor College of Medicine, Houston, TX 77030, USA.

    Papers in Europe PMC
  7. 07
    Gleich F8 papers · 2026

    Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

    Papers in Europe PMC
  8. 08
    Kölker S8 papers · 2026

    Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany. Stefan_Koelker@med.uni-heidelberg.de.

    Papers in Europe PMC
  9. 09
    Lee B8 papers · 2023

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

    Papers in Europe PMC
  10. 10
    Mills PB8 papers · 2026

    Genetics and Genomic Medicine Programme, Great Ormond Street Institute of Child Health, University College London, London, UK.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

high confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 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.

Observational and natural-history studies

5 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.

Recruiting or not-yet-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 14 · after dedupe 14 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 14 · 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).

Uncertain / not reviewed (14)

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 Argininosuccinic aciduria — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely covered — the policy lists Urea cycle disorder 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.

("Argininosuccinic aciduria" OR "ASA deficiency" OR "ASL deficiency" OR "Argininosuccinase deficiency" OR "Argininosuccinatelyase deficiency" OR "Argininosuccinic acid lyase deficiency") OR ("ASL syndrome" OR "ASL-related")

Run this search on Europe PMC

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

"Argininosuccinic aciduria" OR "ASA deficiency" OR "ASL deficiency" OR "Argininosuccinase deficiency" OR "Argininosuccinatelyase deficiency" OR "Argininosuccinic acid lyase deficiency"

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: 3 interventional · 5 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

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 2026-07-26T12:07:45.961Z