Glycerol kinase deficiency, adult form

MedGen UID:: 1842796
•Concept ID:: C5681013
•: Disease or Syndrome

Synonym:	glycerol kinase deficiency, adult form

Monarch Initiative:	MONDO:0017296
Orphanet:	ORPHA284414

Definition

A rare form of glycerol kinase deficiency (GKD) characterized by pseudohypertriglyceridemia in otherwise healthy adults and diagnosed fortuitously. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGlycerol kinase deficiency, adult form

Abnormal circulating metabolite concentration
- Abnormal circulating organic compound concentration
  - Abnormal circulating carbohydrate concentration
    - Abnormal circulating glycerol level
      - Inborn glycerol kinase deficiency
        Isolated glycerol kinase deficiency
        Glycerol kinase deficiency, adult form

Recent clinical studies

Etiology

Duchenne muscular dystrophy: negative scotopic bright-flash electroretinogram but not congenital stationary night blindness.

Tremblay F, De Becker I, Dooley JM, Riddell DC
Can J Ophthalmol 1994 Dec;29(6):274-9. PMID: 7834566

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Diagnosis

Novel mutation (Gly280Ala) in the ATP-binding domain of glycerol kinase causes severe hyperglycerolemia.

Wibmer T, Otto J, Parhofer KG, Otto C
Exp Clin Endocrinol Diabetes 2005 Jul;113(7):396-403. doi: 10.1055/s-2005-865723. PMID: 16025401

Isolated and contiguous glycerol kinase gene disorders: a review.

Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT
J Inherit Metab Dis 2000 Sep;23(6):529-47. doi: 10.1023/a:1005660826652. PMID: 11032329

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Prognosis

Novel mutation (Gly280Ala) in the ATP-binding domain of glycerol kinase causes severe hyperglycerolemia.

Wibmer T, Otto J, Parhofer KG, Otto C
Exp Clin Endocrinol Diabetes 2005 Jul;113(7):396-403. doi: 10.1055/s-2005-865723. PMID: 16025401

See all (1)

Clinical prediction guides

AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.

Zhang Y, Dipple KM, Vilain E, Huang BL, Finlayson G, Therrell BL, Worley K, Deininger P, McCabe ER
Hum Mutat 2000;15(4):316-23. doi: 10.1002/(SICI)1098-1004(200004)15:4<316::AID-HUMU3>3.0.CO;2-9. PMID: 10737976

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Glycerol kinase deficiency, adult form

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

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