Abstract
We report a longitudinal study of 41 patients with liver glycogenosis due to phosphorylase kinase deficiency. In their youth, patients displayed hepatomegaly (92%), growth retardation (68%), delayed motor development (52%), hypercholesterolaemia (76%), hypertriglyceridaemia (70%), elevation of glutamate pyruvate transaminase (56%) and fasting hyperketosis (44%). With age, these clinical and biochemical abnormalities gradually disappeared and most adult patients were asymptomatic.
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Abbreviations
- GOT:
-
glutamate oxaloacetate transaminase
- GPT:
-
glutamate pyruvate transaminase
- GSD:
-
glycogen storage disease
- HSDS:
-
height standard deviation score
- Pase:
-
phosphorylase
- Pasea :
-
active phosphorylase a
- Paseb :
-
inactive phosphorylase b
- PK:
-
phosphorylase kinase
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Willems, P.J., Gerver, W.J.M., Berger, R. et al. The natural history of liver glycogenosis due to phosphorylase kinase deficiency: A longitudinal study of 41 patients. Eur J Pediatr 149, 268–271 (1990). https://doi.org/10.1007/BF02106291
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DOI: https://doi.org/10.1007/BF02106291