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Deficiency of glycerol kinase

Known as: HYPERGLYCEROLEMIA, GKD, Glycerol kinase deficiency 
A rare, X-linked recessive genetic disorder of glycerol metabolism caused by mutations or deletion in the GK gene. It results in deficiency of the… 
National Institutes of Health

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13 relations
Frontal bossingGK geneGK wt AlleleHypoglycemia

Broader (1)

Glycerol Kinase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2000
2000
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase…
Using multiple exons trapped from human chromosome 21 (HC21)-specific cosmids with homology to a putative Arabidopsis thaliana… 
1999
1999
Human beta3 adrenergic receptor agonists containing imidazolidinone and imidazolone benzenesulfonamides.
The cyclopentylpropylimidazolidinone L-766,892 is a potent beta3 AR agonist (EC50 5.7 nM, 64% activation) with 420- and 130-fold… 
1996
1996
Mutations and phenotype in isolated glycerol kinase deficiency.
We demonstrate that isolated glycerol kinase (GK) deficiency in three families results from mutation of the Xp21 GK gene. GK… 
1993
1993
Mental retardation locus in Xp21 chromosome microdeletion.
Xp21 microdeletion syndrome is associated with variable size Xp21 deletions that usually include the glycerol kinase locus. The… 
1992
1992
A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes.
The gene loci for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GK) map in Xp21 distal to Duchenne muscular… 
1990
1990
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
Glycerol kinase deficiency (GKD) has been described in isolation and in complex phenotypes including either congenital adrenal… 
Highly Cited
1987
Highly Cited
1987
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.
Glycerol kinase deficiency (GKD) is an X-linked recessive trait that occurs in association with congenital adrenal hypoplasia (AH… 
1987
1987
Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency.
Two unrelated boys with congenital adrenal hypoplasia and glycerol kinase deficiency were found to have similar features… 
1984
1984
Activator protein-deficient metachromatic leukodystrophy: diagnosis in leukocytes using immunologic methods.
1982
1982
'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency.
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