ORPHA:35704
L-Arginine:glycine amidinotransferase deficiency
Also known as: AGAT deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
168
67.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,077
Distinct authors in sample
Gene link
GATM
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global , , and .
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012996
- MeSH:C567192
- OMIM:612718
- UMLS:C2675179
Additional Mondo synonyms (9)
CCDS3 · GATM deficiency · L-arginine:glycine amidinotransferase deficiency · arginine:glycine amidinotransferase deficiency · cerebral creatine deficiency syndrome 3 · cerebral creatine deficiency syndrome type 3 · creatine deficiency syndrome due to AGAT deficiency · disorder of glycine amidinotransferase activity · glycine amidinotransferase activity disease
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.
- Gene identifiedPresent
Definitive — GATM
- LiteraturePresent
168 matched papers (106 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (GATM).
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?
168
168 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.
168 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).
106 in the last 10 years · high confidence · 67.5th percentile (publications denominator)
Phrase hits: 168 · MeSH hits: 0
Who's working on it?
1,077
Distinct author names in 168 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.
- 01Battini R14 papers · 2026
Division of Child Neurology and Psychiatry, IRCCS Stella Maris and University of Pisa, Via dei Giacinti 2, Calambrone Pisa 56018, Italy.
Papers in Europe PMC - 02Salomons GS10 papers · 2024
Amsterdam UMC location University of Amsterdam, Dept of Laboratory Medicine, Laboratory Genetic Metabolic Diseases and Dept of Pediatrics Emma Children's Hospital, Meibergdreef 9, Amsterdam, the Netherlands.
Papers in Europe PMC - 03Carducci C9 papers · 2025
Department of Experimental Medicine, La Sapienza Università di Roma, Viale del Policlinico 155, Rome 00161, Italy.
Papers in Europe PMC - 04Choe CU9 papers · 2023
Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany.
Papers in Europe PMC - 05Leuzzi V9 papers · 2021
Division of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University, 00185 Rome, Italy.
Papers in Europe PMC - 06Cioni G8 papers · 2020
Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, 56128, Calambrone - Pisa, Italy.
Papers in Europe PMC - 07Schulze A8 papers · 2026
Division of Metabolic and Endocrine Diseases, University Children's Hospital, Heidelberg, Germany. andreas_schulze@med.uni-heidelberg.de
Papers in Europe PMC - 08Stöckler-Ipsiroglu S7 papers · 2021
Room K3-205-4480 Oak Str., V6H 3V4 Vancouver BC, Canada
Papers in Europe PMC - 09Mercimek-Andrews S6 papers · 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Papers in Europe PMC - 10Tosetti M6 papers · 2026
Department of Developmental Neuroscience, MRI Laboratory, IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy.
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 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
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.
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 on the overview but are not added to the query string.
"L-Arginine:glycine amidinotransferase deficiency" OR "AGAT deficiency" OR "CCDS3" OR "GATM deficiency" OR "arginine:glycine amidinotransferase deficiency" OR "cerebral creatine deficiency syndrome 3" OR "cerebral creatine deficiency syndrome type 3" OR "creatine deficiency syndrome due to AGAT deficiency" OR "disorder of glycine amidinotransferase activity" OR "disorder of the glycine amidinotransferase activity" OR "glycine amidinotransferase activity disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"L-Arginine:glycine amidinotransferase deficiency" OR "AGAT deficiency" OR "CCDS3" OR "GATM deficiency" OR "arginine:glycine amidinotransferase deficiency" OR "cerebral creatine deficiency syndrome 3" OR "cerebral creatine deficiency syndrome type 3" OR "creatine deficiency syndrome due to AGAT deficiency" OR "disorder of glycine amidinotransferase activity" OR "disorder of the glycine amidinotransferase activity" OR "glycine amidinotransferase activity disease" OR "GATM"
Recall-expansion terms: GATM
Study-type breakdown: 0 interventional · 1 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 2026-07-26T23:48:06.633Z