ORPHA:408
Isolated glycerol kinase deficiency
Also known as: Hyperglycerolemia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
98
46.2th percentile
Trials
0
Interventional, condition-specific
Researchers
542
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood crisis to an asymptomatic adult form ( GKD, juvenile GKD, and adult GKD).
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018459
- UMLS:C0574108
Additional Mondo synonyms (4)
hyperglycerolemia · isolated inborn glycerol kinase deficiency · nonsyndromic glycerol kinase deficiency · nonsyndromic inborn glycerol kinase 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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
98 matched papers (34 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
98
98 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.
98 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).
34 in the last 10 years · high confidence · 46.2th percentile (publications denominator)
Phrase hits: 98 · MeSH hits: 0
Who's working on it?
542
Distinct author names in 98 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.
- 01McCabe ER13 papers · 2015
Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
Papers in Europe PMC - 02Dipple KM6 papers · 2015
Department of Pediatrics, Division of Genetics, Mattel Children's Hospital at UCLA, 10833 Le Conte Avenue, Los Angeles, CA 90095-1752, USA.
Papers in Europe PMC - 03Zhang YH5 papers · 2015
Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.
Papers in Europe PMC - 04Funahashi T3 papers · 2013
Department of Metabolism and Atherosclerosis, Graduate School of Medicine, Osaka University, 2-2-B, Yamada-oka, Suita, Osaka 565-0871, Japan
Papers in Europe PMC - 05Hellerud C3 papers · 2007
Department of Clinical Chemistry and Transfusion Medicine, Sahlgrenska University Hospital, Göteborg University, Bruna Stråket 16, S 413 415 Gothenburg, Sweden. Christina.Hellerud@clinchem.gu.se
Papers in Europe PMC - 06Hibuse T3 papers · 2013
Suita Municipal Hospital, 2-13-20, Katayamacho, Suita, Osaka 564-0082, Japan
Papers in Europe PMC - 07Huang BL3 papers · 2006Papers in Europe PMC
- 08Maeda N3 papers · 2013
Department of Metabolic Medicine, Graduate School of Medicine, Osaka University, 2-2 B-5, Yamada-oka, Suita, Osaka 565-0871, Japan
Papers in Europe PMC - 09Seltzer WK3 papers · 1994Papers in Europe PMC
- 10Al-Mulla F2 papers · 2026
Immunology & Microbiology Department, Dasman Diabetes Institute, Dasman, Kuwait.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
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.
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.
"Isolated glycerol kinase deficiency" OR "Hyperglycerolemia" OR "isolated inborn glycerol kinase deficiency" OR "nonsyndromic glycerol kinase deficiency" OR "nonsyndromic inborn glycerol kinase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated glycerol kinase deficiency" OR "Hyperglycerolemia" OR "isolated inborn glycerol kinase deficiency" OR "nonsyndromic glycerol kinase deficiency" OR "nonsyndromic inborn glycerol kinase deficiency" OR "inborn glycerol kinase deficiency"
Recall-expansion terms: inborn glycerol kinase deficiency
Study-type breakdown: 0 interventional · 0 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 2026-07-26T13:45:09.884Z