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GENATLAS PHENOTYPE
last update : 13-11-2013
Symbol GKD
Location Xp22.3-p21.3
Name glycerol kinase deficiency
Other name(s) hyperglycerolemia
Corresponding gene GK
Other symbol(s) GKD, GK1
Main clinical features
  • infantile or complex GKD, most common form, contiguous gene syndrome with hyperglycerolemia and glyceroluria, along with adrenal hypoplasia and/or DMD
  • juvenile or symptomatic GKD, cause episodic vomiting, acidemia, and central nervous system deterioretion, including stupor and coma, mental retardation
  • adult form or asymptomatic GKD, detected incidentally with pseudohypertriglyceridemia
    • Genetic determination sex linked
    Related entries DELXP21
    Function/system disorder metabolism/organic acid
    Type disease
    Gene product
    Name glycerol kinase (GK) catalyses the phosphorylation of glycerol to glycerol-3-phosphate in an ATP-dependent reaction
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing   truncated protein splice site mutation resulting in a truncated form
    deletion     exon 17 deletion
    missense     (D440V)
      deletion   contiguous gene deletion of Xp21 causing infantile or complex GKD
    various types      
    Remark(s)
    Genotype/Phenotype correlations severity of symptomatic forms vary greatly and does not seem to correlate with enzyme activity; asymptomatic GKD had GK splice-site mutations, causing a frameshift and introduction of a premature stop codon, with nonsense-mediated decay of mutant RNA