Abstract
The breakdown of glycogen is catalysed by the (glucagon triggered) activation of the phosphorylase(P)-phosphorylase kinase (PK) system. Deficiencies in either of these enzymes leads to glycogen storage disease (GSD). In this study we report on the course of this type of GSD in 41 male patients with X-linked liver PK deficiency and 4 patients with autosomal liver P deficiency. PK deficiency was established in erythrocytes (0.4±0.2 U/mln.gr Hb vs 5.5±2.0 for controls)and in white blood cells (0.08±0.04 U/min.mg protein vs 0.56±0.19 for controls). P deficiency was established in liver biopsy specimen (7.1-15.0 nmoles/min.mg protein vs 12.1-60.0 for controls). Tentative differentiation between liver PK and P deficiency can be performed by a glucagon provocation test. In liver PK deficiency, a normal response of blood glucose was observed (from 3.5±0.6 to 7.2±1.1 mmol/1, n=17) while in liver P deficiency this rise was subnormal (from 3.8±1.1 to 4.5±0.9 mmol/1, n=3). The majority of both PK and P deficient patients presented with severe hepatomegaly (93%), growth retardation (68%), delayed motor development (52%), hyperlipidemia (75%), fasting hyperketosis (44%), and elevation of glutamate pyruvate transaminase (57%). With age, these clinical and biochemical abnormalities gradually disappeared and adult patients were in good health in spite of persisting enzyme deficiency.
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Willems, P., Berger, R., Gerver, W. et al. 66 THE NATURAL HISTORY OF LIVER GLYCOGENOSIS DUE TO PHOSPHORYLASE KINASE OR PHOSPHORYLASE DEFICIENCY: A LONGITUDINAL STUDY OF 45 PATIENTS. Pediatr Res 20, 1044 (1986). https://doi.org/10.1203/00006450-198610000-00120
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DOI: https://doi.org/10.1203/00006450-198610000-00120