Phosphorylase kinase deficiency: Severe glycogen storage disease with evidence of autosomal recessive mode of inheritance

@article{Svik2005PhosphorylaseKD,
  title={Phosphorylase kinase deficiency: Severe glycogen storage disease with evidence of autosomal recessive mode of inheritance},
  author={Oddmund S{\o}vik and Thierry de Barsy and B O Maehle},
  journal={European Journal of Pediatrics},
  year={2005},
  volume={139},
  pages={210}
}
Departments of ~ Pediatrics and 3 Pathology, University of Bergen, 5016 Haukeland Hospital, Bergen, Norway 2 Laboratoire de Chimie Physiologique, Universit6 Catholique de Louvain, Brussels, Belgium (497/U/1) were markedly elevated. Serum cholesterol (8.7 retool/l) as well as triglycerides (3retool/I) were elevated. Her height was between the 2.5th and 10th percentile. In summary, our patient presented the following features: marked hepatomegaly, muscular hypotonia, fasting hypoglycemia, minimal… 

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References

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Glycogenosis Due to Liver and Muscle Phosphorylase Kinase Deficiency

Findings indicate that a four-year-old Israeli Arab boy and two sisters are affected by a rare variant of PK deficiency, which involves both muscle and liver and which apparently is not sex linked.

Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency.

The activity of phosphorylase kinase was measured in haemolysates obtained from a series of patients who had been classified as suffering from type VI glycogenosis, with an almost complete deficiency of phosphate kinase observed in the haEMolysate and in the liver.