ORPHA:88618
S-adenosylhomocysteine hydrolase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
64
50.8th percentile
Trials
0
Interventional, condition-specific
Researchers
498
Distinct authors in sample
Gene link
AHCY
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, multisystemic inherited disease characterized clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, and liver dysfunction. Most patients present in infancy, but the onset can be already in utero or in adult age. Hypermethioninemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients.
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:0013404
- OMIM:613752
- UMLS:C3151058
Additional Mondo synonyms (1)
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
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 — AHCY
- LiteraturePresent
64 matched papers (43 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 (AHCY).
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?
64
64 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.
64 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).
43 in the last 10 years · high confidence · 50.8th percentile (publications denominator)
Phrase hits: 64 · MeSH hits: 0
Who's working on it?
498
Distinct author names in 64 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.
- 01Barić I10 papers · 2022
Department of Pediatrics, University Hospital Center and School of Medicine, Zagreb, Croatia. ibaric@kbc-zagreb.hr
Papers in Europe PMC - 02Vugrek O9 papers · 2023
Translational Medicine Group, Ruđer Bošković Institute, Zagreb, Croatia.
Papers in Europe PMC - 03Mudd SH7 papers · 2015
Laboratory of Molecular Biology, National Institute of Mental Health, Bethesda, MD 20892, USA. muddh@mail.nih.gov
Papers in Europe PMC - 04Wagner C6 papers · 2015
Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, TN, USA.
Papers in Europe PMC - 05Cuk M5 papers · 2011Papers in Europe PMC
- 06Stabler S5 papers · 2020
Department of Medicine, University of Colorado School of Medicine Anschutz Medical Campus, Aurora, CO, USA.
Papers in Europe PMC - 07Allen RH4 papers · 2012Papers in Europe PMC
- 08Baric I4 papers · 2024
Department of Pediatrics, University Hospital Center, Kispatićeva 12, 10000 Zagreb, Croatia. ibaric@kbc-zagreb.hr
Papers in Europe PMC - 09Blom HJ3 papers · 2023
Laboratory Clinical Biochemistry and Metabolism, Center for Pediatrics and Adolescent Medicine University Hospital, Freiburg, Freiburg, Germany.
Papers in Europe PMC - 10Glenn B3 papers · 2006Papers 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.
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
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
- NCT03333200·RECRUITING·Longitudinal Study of Neurodegenerative Disorders
Conditions: MLD · Krabbe Disease · ALD · MPS I·Matched via name phrase
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.
"S-adenosylhomocysteine hydrolase deficiency" OR "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase" OR "hypermethioninemia with deficiency of the S-adenosylhomocysteine hydrolase"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"S-adenosylhomocysteine hydrolase deficiency" OR "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase" OR "hypermethioninemia with deficiency of the S-adenosylhomocysteine hydrolase" OR "AHCY"
Recall-expansion terms: AHCY
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
Ingested 2026-07-27T03:22:12.469Z