ORPHA:407
Glycine encephalopathy
Also known as: NKA · Non-ketotic hyperglycinemia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,200
91.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,144
Distinct authors in sample
Gene link
AMT, GCSH, GLDC
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Glycine (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011612
- UMLS:C0751748
- NCIT:C84937
Additional Mondo synonyms (4)
Nonketotic Hyperglycinemia · glycine encephalopathy · non-ketotic hyperglycinemia · nonketotic hyperglycinemia
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 — AMT, GCSH, GLDC
- LiteraturePresent
1,200 matched papers (610 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 (AMT, GCSH, GLDC).
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?
1,200
1,200 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=5449) is 41.
1,200 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).
610 in the last 10 years · medium confidence · 91.4th percentile (publications denominator)
Phrase hits: 1,200 · MeSH hits: 0
Who's working on it?
1,144
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.
- 01Van Hove JLK11 papers · 2026
Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, Colorado.
Papers in Europe PMC - 02Swanson MA8 papers · 2026
Department of Pediatrics, University of Colorado, Aurora, CO.
Papers in Europe PMC - 03Haldar K6 papers · 2026
Boler-Parseghian Center for Rare and Neglected Disease, and Department of Biological Sciences, University of Notre Dame, Notre Dame, IN, USA.
Papers in Europe PMC - 04Alam MS5 papers · 2026
Boler-Parseghian Center for Rare and Neglected Diseases, Notre Dame, Indiana, USA; Department Biological Sciences, University of Notre Dame, Notre Dame, Indiana, USA.
Papers in Europe PMC - 05Friederich MW5 papers · 2026
Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.
Papers in Europe PMC - 06Wajner M5 papers · 2026
Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
Papers in Europe PMC - 07Arribas-Carreira L4 papers · 2024
Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain.
Papers in Europe PMC - 08Coughlin CR 2nd4 papers · 2026
Department of Pediatrics, University of Colorado, Aurora, CO.
Papers in Europe PMC - 09Farris J4 papers · 2026
Boler-Parseghian Center for Rare and Neglected Disease, and Department of Biological Sciences, University of Notre Dame, Notre Dame, IN, USA.
Papers in Europe PMC - 10Jiang H4 papers · 2026
Department of Pediatrics, The First Hospital of China Medical University, Shenyang, Liaoning, China.
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.
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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.
"Glycine encephalopathy" OR "Non-ketotic hyperglycinemia" OR "Nonketotic Hyperglycinemia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Glycine encephalopathy" OR "Non-ketotic hyperglycinemia" OR "Nonketotic Hyperglycinemia" OR "AMT" OR "GCSH" OR "GLDC"
Recall-expansion terms: AMT, GCSH, GLDC
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
Synonyms dropped by stoplist: NKA
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T13:45:00.345Z