Glycerol kinase deficiency: follow-up during 20 years, genetics, biochemistry and prognosis.

@article{Hellerud2004GlycerolKD,
  title={Glycerol kinase deficiency: follow-up during 20 years, genetics, biochemistry and prognosis.},
  author={Christina Hellerud and N Wramner and Anders Erikson and Annika Johansson and G{\"o}sta Samuelson and Sven Lindstedt},
  journal={Acta paediatrica},
  year={2004},
  volume={93 7},
  pages={911-21}
}
AIM To follow two children with isolated glycerol kinase deficiency (GKD) with severe symptoms into adulthood. METHODS The patients were followed during approximately 20 y and interviewed about symptoms, diet and physical activity. Fasting provocations, bicycle ergometer tests, dietary registrations, enzyme and mutation analysis were performed by standard protocols. RESULTS The activity of glycerol kinase (GK) in fibroblasts was <10% of reference. One case had a deletion of exon 17, the… CONTINUE READING

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