Article
Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.
Journal of medical genetics - 1 Aug 1998
Sjarif D R, Sinke R J, Duran M, Beemer F A, Kleijer W J, Ploos van Amstel J K, Poll-The B T
Abstract excerpt
Isolated glycerol kinase deficiency (GKD) is an X linked recessive disorder. The clinical and biochemical picture may vary from a childhood metabolic crisis to asymptomatic adult "pseudohypertriglyceridaemia", the result of hyperglycerolaemia. We performed glycerol kinase (GK) gene analysis to st...
Topics
- Amino Acid Sequence
- Child
- Child, Preschool
- Female
- Genetic Heterogeneity
- Glycerol
- Glycerol Kinase
- Humans
- Infant
- Male
- Metabolism, Inborn Errors
- Molecular Sequence Data
- Mutation
- Pedigree