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. 1990 Jan;149(4):268-71.
doi: 10.1007/BF02106291.

The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients

P J Willems  1 , W J Gerver, R Berger, J Fernandes
Affiliations

The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients

P J Willems et al. Eur J Pediatr. 1990 Jan.

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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