Investigations on glycogen disease

Abstract

Under the title ' chronic hepatogenic hypoglyeaemia in childhood ' we described1', some time ago a number of investigations in a boy who had had a very large liver since birth. Clinically he gave the impression of adiposogenital dystrophy, and, in addition, he showed a very marked disturbance of carbohydrate metabolism. The predominant features of this disturbance were chronic hypoglyeaemia in the fasting state, without the usual symptoms, and accompanied by ketosis; little or no change in the blood-sugar value after subcutaneous injection of adrenalin, and hypersensitiveness to small quantities of insulin. As a cause of this anomalous disturbance we conceived a continuation of the foetal condition, and we sought in faulty glycogenolysis an explanation of the condition. Thus in our boy the ketosis and the absence of hyperglycaemic response to adrenalin might not depend upon a poor glycogen content of the liver.We found support for our ideas especially in the publications of von Gierke3'4 and Sch6nheimer5. We thought we had to deal in our boy with a case of hepatomegalia glycogenica as described by von Gierke, and that the disturbances in metabolism in our case were characteristic for this form of liver hypertrophy. The features of this hypertrophy were the accumulation of glycogen, which during life and after death could be mobilized only with difficulty. Since then the interest in ' glycogen disease has-greatly increased and different authors6-12a have published definite cases of ' hepatomegalia glycogenica,' which have been studied clinically. The deviations in metabolism found by these authors as a whole agree with those found in our case. In our opinion our case is therefore one of hepatomegalia glycogenica and in this we are supported by the recent findings of other investigators. It is important to note that this interesting glycogen disease must be regarded as a general disease of metabolism, in which the glycogen can only be mobilized with difficulty, and may accumulate in various organs, not only in the liver. In this way it may give rise to hypertrophy of different organs. This accumulation of glycogen plays a big role in the occurrence of a number of congenital deviations and in those arising shortly after birth. Thus, it is a disturbance which merits the consideration of paediatricians, and the study of this disturbance will increase our insight into several diseases of childhood. Further, glycogen disease and on 12 May 2018 by guest. Protected by copyright.

Glycogen-Storage Disease of the Myocardium with Obstruction to Left Ventricular Outflow

“…oIn a biopsy specinmen; the glucosidase was not made. The patient died aind autopsy chain length, per cent degradation by phosphorylase, and the average number of residues in both inner and outer chains.26 31,34 Glucose-6-phosphatase was present in normal quantities in the liver,26 [31][32][33][34][35][36][37][38][39][40][41][42][43] and no significant depression of phosphorylase activity was demonstrable in cardiac muscle.31 34 In no instance has there been detectable accumulation of intermediary products of metabolism or excessive combustion of fat. Ability to generate blood glucose from liver glycogen in response to epinephrine has been normal.…”

Postmortem Hepatic Glycogenolysis in Hyperinsulinism and Glycogen Disease 1

“…By mechanical trauma, such as slicing of the tissue, postmortem glycogenolysis was accelerated in 8 Phosphate ions increase hepatic glycogenolysis (Figure 2, D, F As is shown in the experiment made in the glucose-fattened rabbit (Table I, Figure 2), high liver-glycogen content does not in itself inhibit postmortem glycogenolysis. This was demonstrated earlier by Kimmelstiel (15) (Figure 2, F).…”

“…in an intact state (8,26) and at ice box temperature in an intact as well as a pulped state (27, 28, (33)). Furthermore, the opinion has been offered that the insulin-treated cases of puerile diabetes resulting in hepatomegaly, obesity, and retardation of growth may represent a transition from diabetes into secondary glycogen disease (34).…”

The extraordinary career of Professor Dr. Simon van Creveld

“…Van Creveld had an interest in glycogen storage disease [van Creveld, , , ; van Creveld and van der Linde, ], which was named after him as van Creveld–von Gierke disease for which he provided four published articles [Whonamedit]; had an interest in myocarditis [van Creveld et al, ; de Jager and van Creveld, ; van Creveld and Hartog, ; van Creveld, ] associated with rheumatoid arthritis [van Creveld et al, ; van Creveld and Kuipers, 1950, 1952]; and had an interest in the management of diabetes mellitus [van Creveld, 1955, 1957].…”