ORPHA:46
Adenylosuccinate lyase deficiency
Also known as: ADSL deficiency · Adenylosuccinase deficiency
Clinical definition (Orphanet)
A disorder of purine metabolism characterized by , psychomotor delay and/or regression, , and autistic features.
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.
Is anyone studying this?
391
391 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=183) is 38.
391 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
205 in the last 10 years · medium confidence · 80.6th percentile (publications denominator)
Is a treatment being tested?
1
trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 26 July 2026
1 interventional trial — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 65.3th percentile).
medium confidence · 65.3th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (ADSL).
GenCC classification: Definitive.
Who's working on it?
1,139
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.
- 01Kmoch S17 papers · 2026
Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic.
Papers in Europe PMC - 02Zikanova M16 papers · 2026
Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic. Electronic address: mzika@lf1.cuni.cz.
Papers in Europe PMC - 03Skopova V13 papers · 2026
Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic.
Papers in Europe PMC - 04Baresova V11 papers · 2026
Institute of Inherited Metabolic Disorders, Charles University in Prague and General University Hospital in Prague, 128 08 Prague 2, Czech Republic.
Papers in Europe PMC - 05Marie S11 papers · 2013
Laboratory of Physiological Chemistry, Christian de Duve Institute of Cellular Pathology and University of Louvain Medical School, Brussels, Belgium.
Papers in Europe PMC - 06Vincent MF9 papers · 2009Papers in Europe PMC
- 07van den Berghe G8 papers · 2013Papers in Europe PMC
- 08Zikánová M8 papers · 2022
Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Papers in Europe PMC - 09Jurecka A7 papers · 2015
Metabolic Diseases Clinic, the Children's Memorial Health Institute, Warsaw, Poland. ajurecka@gmail.com
Papers in Europe PMC - 10Krijt J7 papers · 2015
Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic. Electronic address: jkrijt@lf1.cuni.cz.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
1 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
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.
Recruiting or not-yet-recruiting
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 2026-07-26This 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 below but are not added to the query string.
"Adenylosuccinate lyase deficiency" OR "ADSL deficiency" OR "Adenylosuccinase deficiency" OR "inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder" OR "inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity" OR "rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity"
MeSH descriptor terms unioned into the query: Adenylosuccinate lyase deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Adenylosuccinate lyase deficiency" OR "ADSL deficiency" OR "Adenylosuccinase deficiency" OR "ADSL"
Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C538235 OMIM:103050 UMLS:C0268126
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
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 (391) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium