ORPHA:382
Guanidinoacetate methyltransferase deficiency
Also known as: GAMT deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
467
83th percentile
Trials
0
Interventional, condition-specific
Researchers
1,316
Distinct authors in sample
Gene link
GAMT
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global / (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, , and various types of pyramidal and/or extra-pyramidal manifestations.
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:0012999
- MeSH:C537622
- OMIM:612736
- UMLS:C0574080
Additional Mondo synonyms (5)
cerebral creatine deficiency syndrome 2 · cerebral creatine deficiency syndrome type 2 · disorder of guanidinoacetate N-methyltransferase activity · guanidinoacetate N-methyltransferase activity disease · guanidinoacetate methyltransferase deficiency
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 — GAMT
- LiteraturePresent
467 matched papers (268 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 (GAMT).
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?
467
467 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.
467 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).
268 in the last 10 years · medium confidence · 83th percentile (publications denominator)
Phrase hits: 467 · MeSH hits: 0
Who's working on it?
1,316
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.
- 01Salomons GS17 papers · 2025
Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU Medical Center, Amsterdam, The Netherlands.
Papers in Europe PMC - 02Schulze A16 papers · 2026
Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 03Mercimek-Andrews S8 papers · 2025
Department of Medical Genetics Faculty of Medicine and Dentistry University of Alberta Edmonton Alberta Canada.
Papers in Europe PMC - 04Lipshutz GS7 papers · 2025
Department of Surgery, David Geffen School of Medicine at UCLA, 757 Westwood Plaza, Room 8501G, Los Angeles, CA, 90095-7054, USA. glipshutz@mednet.ucla.edu.
Papers in Europe PMC - 05Tkachyova I7 papers · 2026
Research Institute, The Hospital for Sick Children, University of Toronto, Toronto, ON, M5G 1X8, Canada.
Papers in Europe PMC - 06Jakobs C6 papers · 2012Papers in Europe PMC
- 07Longo N6 papers · 2025
Scientific Medical Advisory Board, Association for Creatine Deficiencies, Carlsbad, CA, USA.
Papers in Europe PMC - 08Mercimek-Mahmutoglu S6 papers · 2016
Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada; Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.
Papers in Europe PMC - 09Pasquali M6 papers · 2025
Department of Pathology, University of Utah, Salt Lake City, UT, 84108, USA, PASQUAM@aruplab.com.
Papers in Europe PMC - 10Carducci C5 papers · 2025
Dipartimento di Medicina Sperimentale e Patologia, Università degli Studi di Roma La Sapienza, Rome, Italy. cardu-cla@yahoo.com
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. 2 observational studies 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.
medium 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
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.
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.
"Guanidinoacetate methyltransferase deficiency" OR "GAMT deficiency" OR "cerebral creatine deficiency syndrome 2" OR "cerebral creatine deficiency syndrome type 2" OR "disorder of guanidinoacetate N-methyltransferase activity" OR "disorder of the guanidinoacetate N-methyltransferase activity" OR "guanidinoacetate N-methyltransferase activity disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Guanidinoacetate methyltransferase deficiency" OR "GAMT deficiency" OR "cerebral creatine deficiency syndrome 2" OR "cerebral creatine deficiency syndrome type 2" OR "disorder of guanidinoacetate N-methyltransferase activity" OR "disorder of the guanidinoacetate N-methyltransferase activity" OR "guanidinoacetate N-methyltransferase activity disease" OR "GAMT"
Recall-expansion terms: GAMT
Study-type breakdown: 0 interventional · 2 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
- Publication count (467) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T13:38:55.753Z