ORPHA:35704
L-Arginine:glycine amidinotransferase deficiency
Also known as: AGAT deficiency
Publications
4,901
Trials
0
Interventional, condition-specific
Researchers
1,077
Distinct authors in sample
Gene link
GATM
Definitive
Readiness
3/6
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.”
3/6 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
4,901 matched papers (3,242 in last 10 years) Source
- Phenotype characterisedPresent
33 HPO annotations (e.g. Myopathy; Reduced circulating creatine concentration; Decreased CSF creatinine concentration) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
33
Associated phenotypes · MONDO:0012996
- Myopathy
- Reduced circulating creatine concentration
- Decreased CSF creatinine concentration
- Cognitive impairment
- Decreased serum creatinine
Showing 5 of 33 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
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?
4,901
4,901 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.
4,901 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).
3,242 in the last 10 years · low confidence
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 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.
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 L-Arginine:glycine amidinotransferase deficiency — check Associations / patient organisations on that page.
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") OR ("GATM" OR "GATM syndrome" OR "GATM-related")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"
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
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 (4901) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T23:48:06.633Z