Case Of Glycogenosis Research Articles

Polymicrogyria in glycogenosis type III: An incidental finding?

The purpose of the present report is to document a 20-year-old woman with glycogenosis type III who presented a malformation of cortical development, in this case a polymicrogyria over bilateral perisylvian regions. Association of a malformation of cortical development in this type of glycogenosis has not been previously reported. The existence of previous cases of glycogenosis associated with malformations of cortical development led us to believe that glycogen storage during pregnancy may act as a harmful prenatal event. On the other hand, the presence of a lesion associated with severe neurologic deficits in one patient with a milder form of glycogenosis is in disagreement with the idea that there is a strong correlation between the severity of the central nervous system lesion and that of the disease.

Liver glycogen storage associated with uncontrolled type 1 diabetes mellitus

A 21-year-old female with a 9-year history of brittle type 1 diabetes mellitus was admitted because of hypoglycaemia. She was not an alcohol or drug consumer and was not taking any medication other than insulin. During the last 7 months she had undergone several bouts of right upper quadrant abdominal pain associated with abnormal liver function tests (AST 162 U/l, ALT 140 U/l, GGT 250 U/l, alkaline phosphatase 300 U/l). A tender hepatomegaly was detected on admission. Laboratory tests disclosed hypertransaminasaemia (AST 3679 U/l, ALT 1135 U/l). GGT was 540 U/l, alkaline phosphatase 363 U/l, HbA1C 8.1%, cholesterol 292 mg/dl, and triglycerides 291 mg/dl. Serologic tests for HAV, HBV, HCV, and autoantibodies were all negative. Liver ultrasound examination demonstrated diffuse high echogenicity suggesting a fatty liver. A liver biopsy was performed. Histological examination showed a preserved liver architecture. Hepatocytes exhibited marked cytoplasmic swelling and prominent plasma membranes. Sinusoidal compression by these swollen hepatocytes lent a ‘paved’ appearance to the liver parenchyma. Additionally, numerous liver cells exhibited glycogenized nuclei (left figure; hematoxylin–eosin stain, ×400) and abundant PAS-positive cytoplasmic glycogen deposits (right figure; PAS stain, ×400), which were not visible after digestion with diastase. This clinical picture, caused by liver glycogen storage in a patient with uncontrolled type 1 diabetes mellitus, resembles Mauriac syndrome of children. An intensive insulin treatment resulted in an optimal glycaemia control 7 weeks after admission (HbA1C, 6.7%) and, coincidental with this, all liver function tests, sonographic findings and liver size became normal. This reversible disturbance has been reported in unstable type 1 diabetes mellitus at any age and, exceptionally, in insulin-treated type 2 diabetes mellitus [1Chatila R West A.B Hepatomegaly and abnormal liver test due to glycogenosis in adults with diabetes.Medicine (Baltimore). 1996; 75: 327-333Crossref PubMed Scopus (143) Google Scholar, 2Marangiello R Giorgetti R A case of glycogenosis in a patient with insulin dependent diabetes.Minerva Pediatr. 1996; 48: 279-281PubMed Google Scholar].

Human microsomal glucose-6-phosphatase system.

The discovery of glucose-6-phosphatase (EC 3.1.3.9) and of its physiological function in releasing glucose from the liver are discussed briefly. The identification by the Coris of glucose-6-phosphatase deficiency as the underlying defect in certain cases of glycogenosis (type I glycogenosis; von Gierke disease) is described. Characteristics of the catalyst, with a focus on its multiplicity of functions and multicomponent character, are considered with an emphasis on the human liver enzyme. Pioneering studies from the author's laboratory leading to the characterization of two variants of type I glycogenosis, types Ib and Ic, are described.

Manejo nutricional de la glucogenosis

Three cases of glycogenosis are presented. They were recognized by clinical evidence and hepatic biopsy specimens. Dietary treatment with a normocaloric diet and raw corn starch every 6 hours was given. In cases 1 and 2 hepatic size returned to normal and they showed an initial catch up growth without signs of renal disease or other complications. Case 3 showed persistent hepatomegaly, normal growth pattern and no hypoglycemic episodes independently of nutritional management. These cases represent our initial experience on nutritional intervention in glycogenosis, even though enzymatic tests were not done, which are considered essential for optimal diagnosis and nutritional therapy of glycogen storage disease.

Liver Glycogenosis Caused by a Defective Phosphorylase System: Hemolysate Analysis

Investigated were 24 cases of glycogenosis caused by a reduction in liver phosphorylase activity. The intravenous glucagon tolerance test could not discriminate between phosphorylase kinase deficiency [glycogen storage disease (GSD) IX] and phosphorylase deficiency (GSD VI). These two subgroups were distinguished by hemolysate enzyme assays: (1) GSD IX was characterized by a residual phosphorylase kinase activity, a low activation curve for endogenous phosphorylase b and increased amylo-1,6-glucosidase activity. (2) GSD VI was characterized by a normal or increased phosphorylase kinase activity, a slight activation of endogenous phosphorylase b and a normal amylo-1,6-glucosidase activity.

Glycogenosis of the central nervous system in the cat.

A case of glycogenosis in the cat involving the central nervous system is reported. The electron microscopic picture is highly suggestive of Pompe's disease.

Biochemical investigation of an unusual case of glycogenosis

An unusual case of combined glycogenosis with muscle limit dextrinosis, myopathy, and defective liver glucose-6-phosphatase (G-6-Pase) is described. The clinical symptoms resembled those of McArdle's syndrome, except that the onset of the disease occurred at an early age and the patient lacked sustained muscle contracture after prolonged exercise. The patient's muscle phosphorylase and glycolytic apparatus were normal except for an amylo-1-6-glucosidase deficiency, whereas the defect in McArdle's syndrome is a deficiency in muscle phosphorylase. The patient's restricted exercise tolerance did not improve even when muscle cell glycolysis was experimentally increased. An unusual case of combined glycogenosis with muscle limit dextrinosis, myopathy, and defective liver glucose-6-phosphatase (G-6-Pase) is described. The clinical symptoms resembled those of McArdle's syndrome, except that the onset of the disease occurred at an early age and the patient lacked sustained muscle contracture after prolonged exercise. The patient's muscle phosphorylase and glycolytic apparatus were normal except for an amylo-1-6-glucosidase deficiency, whereas the defect in McArdle's syndrome is a deficiency in muscle phosphorylase. The patient's restricted exercise tolerance did not improve even when muscle cell glycolysis was experimentally increased.

Electron microscopic study of a case of cerebral glycogenosis.

This case of glycogenosis seams different from all the previously described forms of this disease. There are neither hepatic nor muscular evident glycogen accumulation. However, in brain cortex, β glycogen particles are stored in the glial processes, both astrocytic and oligodendrocytic, while axons, dendrites, and synaptic junctions are filled with glycogen in α or giant α particles. The morphology of these latter ones is “en rosettes” as that of the normal α particles but their diameter is 200 to 350 mμ instead of 100 to 150 mμ. Clinically this disease appeared as a progressive cerebral degeneration without any sign of disturbance in the hydrocarbon metabolism. No pathogenic explanation seems actually satisfactory.

Glycogenosis (von Gierke's disease) in a Negro infant.

Von Gierke¹in 1929 described cases of hypertrophy of the liver and kidneys caused by excess accumulations of glycogen. This entity was given the name of glycogenosis. Mason and Andersen²showed that this condition was due to abnormal metabolism of glycogen resulting from a congenital defect in that portion of the enzyme system of the liver which converts glycogen to dextrose and dextrose to glycogen. It is not within the scope of this paper to review the literature or reports of cases of glycogenosis, as this has been excellently done by Mason and Andersen²and by van Creveld.³The purpose of this report is to present a case of von Gierke's disease occurring in a Negro infant in a large hospital, where investigation shows that only 2 cases have been found in more than 500,000 admissions in the past eleven years. It is also of interest

Glycogenosis

SUMMARYDescription of a case of glycogenosis in a boy barely one year old. The signs characteristic of this disease, especially enlargement of the liver and disturbance of carbohydrate metabolism, were present to a striking degree. In addition to the usual examinations in cases of glycogenosis liver puncture was done and provided valuable information. The patient in question died and was autopsied, and the gross and microscopic findings were typical of glycogenosis. Chemical analysis of a number of organs showed that they were rich in glycogen 16 hours after death. On account of the lack of normal standards, it is, however, impossible to be certain whether the glycogen content was pathologically elevated. The microscopic and chemical findings together do, however, strongly suggest that such was the case.A further case is described with tremendous enlargement of the liver in an infant of about 6 months. Aside from the large liver, nothing pathological could be found. It is suspected that this patient also suffered from glycogenosis, and that most of the symptoms had not yet come to light on account of the age.The earlier cases of glycogenosis in the literature are reviewed and a summary is given of the symptoms, course, differential diagnosis, pathogenesis and etiology.