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ORPHA:407

Glycine encephalopathy

medium confidenceDisorder

Also known as: NKA · Non-ketotic hyperglycinemia

Publications

3,443

91th percentile

Trials

0

Interventional, condition-specific

Researchers

1,144

Distinct authors in sample

Gene link

AMT, GCSH, GLDC

Definitive

Readiness

5/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

5/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — AMT, GCSH, GLDC

  2. LiteraturePresent

    3,443 matched papers (2,329 in last 10 years) Source

  3. Phenotype characterisedPresent

    123 HPO annotations (e.g. Lethargy; Encephalopathy; Hyperglycinemia) Source

  4. Animal modelPresent

    3 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. glyceryl tribenzoate Source

  6. 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)

123

Associated phenotypes · MONDO:0011612

  • Lethargy
  • Encephalopathy
  • Hyperglycinemia
  • Generalized hypotonia
  • Impulsivity

Showing 5 of 123 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA glyceryl tribenzoateNonketotic Hyperglycinemia · 2019-10-15 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

8 associated chemicals · 9 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Benzoates · therapeutic
  • Dextromethorphan · therapeutic
  • Leucovorin · therapeutic
  • Sodium Benzoate · therapeutic
  • Sodium Salicylate · therapeutic
  • Strychnine · therapeutic
  • Glycine · marker/mechanism
  • Homocysteine · marker/mechanism

Pathways: Glycine, serine and threonine metabolism; Glyoxylate and dicarboxylate metabolism; One carbon pool by folate; Metabolic pathways; Carbon metabolism; Metabolism; Glyoxylate metabolism and glycine degradation; Glycine degradation

MyDisease.info · MONDO:0011612

Literature

Is anyone studying this?

3,443

3,443 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.

3,443 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).

2,329 in the last 10 years · medium confidence · 91th percentile (publications denominator)

Phrase hits: 1,200 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Van Hove JLK11 papers · 2026

    Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, Colorado.

    Papers in Europe PMC
  2. 02
    Swanson MA8 papers · 2026

    Department of Pediatrics, University of Colorado, Aurora, CO.

    Papers in Europe PMC
  3. 03
    Haldar 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
  4. 04
    Alam 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
  5. 05
    Friederich MW5 papers · 2026

    Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.

    Papers in Europe PMC
  6. 06
    Wajner M5 papers · 2026

    Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.

    Papers in Europe PMC
  7. 07
    Arribas-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
  8. 08
    Coughlin CR 2nd4 papers · 2026

    Department of Pediatrics, University of Colorado, Aurora, CO.

    Papers in Europe PMC
  9. 09
    Farris 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
  10. 10
    Jiang 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 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.

medium 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

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.

Open the complete matched search on ClinicalTrials.gov

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.

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 Glycine encephalopathy — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("AMT syndrome" OR "AMT-related" OR "GCSH" OR "GCSH syndrome" OR "GCSH-related" OR "GLDC" OR "GLDC syndrome" OR "GLDC-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Glycine encephalopathy" OR "Non-ketotic hyperglycinemia" OR "Nonketotic Hyperglycinemia"

Study-type breakdown: 0 interventional · 2 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

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