Introduction Pocket Metab Impressum
··· Diseases ··· Symptoms ··· Lab Parameters ··· Authors ··· Ramedis ··· BH4 Patient
DiseaseGLYCEROL KINASE DEFICIENCY
SynonymHYPERGLYCEROLEMIA, GLYCEROLURIA; GLYCEROL KINASE DEFICIENCY
OMIM307030 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes
OMIM = Online Medalian Inheritance of Men
Orphanet Short summery, also for non professionals on www.orpha.net
Enzymeglycerol kinase Detailed enzyme information on www.expacy.ch
Gene locus Xp21.3-p21.2
genetests.org search search on genetest.org by MIM 307030
search search on genetest.org by ://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/disease/GLYCEROL%20KINASE%20DEFICIENCY?db=genetests
Testing - View a listing of laboratories that provide clinical testing for this disorder
Resources - View and print relevant consumer health-oriented resources.
Summaryrare (>50 cases) X-linked 3 types: 1) complex glycerol kinase deficiency, Xp21 contiguous gene syndrome 2) juvenile form 3) benign or adult form
Clinical symptoms
Abnormal Findings in
blood
  • pH
    Normal: 7.35-7.45 no unit | Significant : 7.10-7.35 no unit
Abnormal Findings in
serum
  • Creatinine kinase
    Normal: 40.00-400.00 U/l | Significant : - normal/increased
  • Glucose, >1 d
    Normal: 2.80-5.00 mmol/l | Significant : 0.50-3.00 mmol/l
  • Glycerol
    Normal: 0.02-0.27 mmol/l | Significant : 1.80-8.30 mmol/l
  • Pseudohypertriglyceridemia
    | Significant : -
Abnormal Findings in
urine
  • Glycerol
    Normal: 0.00-40.00 mmol/mol creatinine | Significant : 90.00-190.00 mol/mol creatinine
Treatment
  • corticosteroids
  • glucose infusion (acute)
  • mineralocorticoid
LiteratureThere are 9 publications available.
Click here to open the relevant GLYCEROL KINASE DEFICIENCY publications
Ramedis
Case reports with long term followup
There are 4 patient data available.
Click here to open the list of GLYCEROL KINASE DEFICIENCY patients documented in Ramedis database