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PubMed2002

Neurologic and cardiac progression of glycogenosis type VII over an eight-year period.

Little is known about the progression of phosphofructokinase deficiency (glycogenosis type VII, Tarui's disease). We describe a 66-year-old woman who had this disease diagnosed in 1997. Initial manifestations had included simple partial seizures since 1977, anginal chest pain since 1982, and muscle cramps since 1983. To prevent recurrent myocardial infarction, anticoagulation therapy with phenprocumon was initiated. Cardiac involvement progressed over an 8-year period, manifesting as low-voltage electrocardiogram (ECG), ectopic supraventricular tachycardia, thickened mitral valve, mitral valve insufficiency, enlarged left atrium, left ventricular hypertrophy, and diastolic dysfunction. Progression of neurologic involvement manifested as complex partial seizures, double vision, reduced tendon reflexes, central facial palsy, bradydiadochokinesia, and distal weakness of the upper extremities. Discontinuance of oral anticoagulation after 19 years, initiation of enalapril therapy, and administration of carbamazepine markedly improved the patient's condition.

Aged↗

PubMedDate not supplied

[Acid hydrolysis of urinary oligosaccharides in type I glycogenosis].

Oligosaccharides were isolated by thin layer chromatography from the urine of a patient diagnosed upon clinical and laboratory characteristics as glycogenosis Ia. The oligosaccharides were hydrolyzed with H2SO2 0.5 M at 100 degrees C. The hydrolysis was interrupted at 5, 10 and 20 minutes by the neutralization of the pH at standard temperature. Chromatography of the product of hydrolysis was performed and alpha 1-4 bonds were identified with the addition of ADP developer. The final product of the whole hydrolysis of all the oligosaccharides was glucose.

Child, Preschool↗

PubMed1976

[The fructose induced "glycogenosis". II. Histochemical studies of glycogen metabolism in rat liver after fructose overload and similar diets (author's transl)].

INTRODUCTION: Feeding of fructose for 7 days has been morphometrically shown to induce a SER-reduction and an accumulation of glycogen in rat liver cells. This hypothetical model "glycogenosis" is investigated with histochemical methods. MATERIAL AND METHODS: Rats are given a solution of 60% fructose in water as only nutritional source. Controls are given a solution of 60% glucose in water, an isocaloric Altromin-R-standard diet and an Altromin-R-standard diet ad libitum. Reversion of fructose induced metabolic changes is investigated by a 7 days fructose diet followed by an 1-4 days Altromin-R-standard diet ad libitum. Glycogen and glycogen metabolizing enzymes are demonstrated after a 7 days diet and in the course of an 1-7 days fructose diet. RESULTS AND DISCUSSION: Feeding of fructose leads to a high glycogen content, combined with a high activity of glycogen-phosphorylase and glucose-6-phosphatase in the liver parenchyma. Glycogen-synthetase activity increases during the first 4 days and then it drops to a low level. A pathological alteration of liver cell metabolism seems to be improbable, for all fructose induced changes are reversibel after 2 days of Altromin-R-standard diet. Glucose-6-phosphatase, as a marker-enzyme of the smooth endoplasmatic reticulum, is discussed to become activated by disruption of SER membranes due to fructose.

Acid Phosphatase↗

PubMed1977

Generalized glycogenosis in beef shorthorn cattle--heterozygote detection.

A preliminary study of acidic alpha-glucosidase in a variety of tissues was carried out in an attempt to develop a test which might be used to detect individuals heterozygous for the genetype associated with generalized glycogenosis in beef Shorthorn cattle. Of the tissues readily available peripheral lymphocytes were chosen as being likely to be the most suitable. It was concluded that, when coupled with genealogical information, assays of alpha-glucosidase in extracts of lymphocytes were useful for identifying heterozygous individuals with a reasonably high degree of probability.

Animals↗

PubMed1978

Renal tranplantation in type 1 glycogenosis. Failure to improve glucose metabolism.

In glycogenosis type 1 (GT1), glucose synthesis is deficient due to absence of glucose-6-phosphatase. Development of renal failure in such a patient provided the opportunity to test whether or not this metabolic defect could be reversed by a renal allograft, which contains the missing enzyme and has potential for glucose synthesis. Despite normalization of renal function and both glucocorticoid therapy and the infusion of amino-acid precursors of glucose, fasting hypoglycemia persisted unabated. We conclude that a funtioning renal allograft is incapable of meeting the metabolic demands of a patient with glucose-6-phosphatase deficiency.

Adult↗

PubMedDate not supplied

[Serum lipoproteins in the generalized form of type III glycogenosis].

Distinct accumulation of glycogen, anomalous in structure, and absence of amylo-1,6-glucosidase activity were observed in studies of material obtained by biopsy from liver and muscle tissues of a patient with generalized form of glycogenosis type III. Anamalous glycogen (limitdextrin) was also found in erythrocytes. Concentration of lipoproteins, especially of low density lipoproteins 12.20 S and 0-12 S, was increased in blood serum. Spectrum of lipoproteins acquired a tendency to normalization simultaneously with clinical improvement after intravenous administration of glucose and treatment with cholesterolamine per os.

Child↗

PubMed1979

[Regulation of glycogen metabolism in the liver and hepatic glycogenosis due to phosphorylase system deficiency].

Glycogen synthesis and breakdown in the liver are tightly controlled through different mechanisms. The purpose of this review is to describe some properties of the enzymes involved in the glycogen metabolism and the sequence of events by which glucose, allosteric effectors and hormones control this metabolism in the liver. Clinical, genetic and biological aspects of the phosphorylase and the phosphorylase kinase deficiencies are examined. The enzymatic analysis of the haemolysates from the patients allows discrimination of these two types of glycogenosis.

Glycogen Storage Disease↗

PubMed1988

[Cardiomuscular lysosomal glycogenosis in adults without known enzyme deficiency. A cause of familial myocardiopathy and lysosomal glycogen overload with normal acid maltase].

An unusual form of familial myocardiopathy is reported. The disease affected siblings entering adulthood and presented as subclinical skeletal muscle and patent cardiac muscle lesions. Quadriceps muscle biopsy performed in a young man who subsequently died of cardial failure revealed excessive lysosomal glycogen storage, as in type II glycogenosis, but biochemistry showed normal enzymatic activity. In a sister with hypertrophic myocardiopathy only leucocytes were examined; they also showed normal enzymatic activity. Other clinical manifestations of this form of familial myocardiopathy are hypoglycaemia and moderate skeletal muscle involvement. At histology, the image is that of Pompe's disease, but the acid maltase level is normal. The condition seems to be transmitted as an autosomal dominant trait.

Adult↗

PubMedDate not supplied

Glycogenosis with amylopectinoid deposits in a 13-year-old girl.

We present a clinical study and muscle biopsy of a 13-year-old female who suffered hypertrophic cardiomyopathy, hepatosplenomegaly and myopathy of prolonged evolution. The muscle biopsy showed a glycogenosis with deposits of amylopectin-like material. Differential diagnosis was made with basophilic degeneration of the myocardium, and with "polyglucosan bodies disease." In the existing literature we found only one case of juvenile amylopectinosis, and another four adult cases.

Adolescent↗

PubMed1986

[Hemodynamic findings in the adult form of type II glycogenosis].

This report describes a family with late-onset acid maltase deficiency. In two sisters a disturbed left ventricular function could be demonstrated, although skeletal muscle involvement with respiratory insufficiency was responsible for the clinical symptoms. The findings present evidence that myocardial involvement may exist in adult type II glycogenosis.

Cardiac Catheterization↗

PubMed1979

Muscular form of glycogenosis type II (Pompe's disease).

An 11-year-old boy who was previously thought to have progressive muscular dystrophy was studied clinically, biochemically, and histologically. He was seen initially with an amyotonic syndrome with no clinical evidence of heart disease. Light and histochemical examination showed vacuolar degeneration and abnormal accumulation of glycogen in the muscular fibers. Electron microscopy showed aggregates of glycogen granules surrounded by a well-defined membrane, as in previously reported cases of type II glycogenosis. Enzymatic study disclosed that acid alpha-glucosidase was deficient in muscle, liver, and heart tissue, although neutral alpha-glucosidase was present within normal ranges. Measurement of acid and neutral alpha-glucosidase activity in muscle from the patient and his sisters and in urine from them and their parents indicated that his sisters are heterozygotes and his parents probably are heterozygotes. The disease was transmitted as an autosomal-recessive trait.

Child↗

PubMed1984

[Clinical features, diagnosis and treatment of McArdle's glycogenosis].

On the basis of the data obtained by examining five patients with MacArdle 's glycogenosis, the authors identified the features of the clinical course of the illness, specified its individual forms and determined criteria for its differential diagnosis in relation to various phenocopies. Histochemical investigation of biopsy specimens of muscular tissue revealed glycogen accumulation but failed to show any muscular phosphorylase activity. The principal therapeutic methods are outlined.

Genes, Dominant↗

PubMed1980

Angiocardiographic and enzyme studies in a patient with type II glycogenosis (Pompe's disease). A case report.

An infant with hypotonia, gross cardiomegaly and heart failure is described. Angiocardiography revealed a hypertrophic restrictive cardiomyopathy. The diagnosis of type II glycogenosis was confirmed by the total absence of alpha-1,4-glucosidase in cultured skin fibroblasts. It is now possible to offer prenatal diagnosis by amniocentesis to women at risk of having affected children.

Clinical Enzyme Tests↗

PubMed1981

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.

Child↗

PubMed1981

[Glycogenosis caused by amylo-1,6-glucosidase deficiency. Myopathy as a lead finding in adults].

Glycogen storage disease due to amylo-1,6-glucosidase deficiency was diagnosed in a 21-year-old patient. The enzyme defect was demonstrated by biochemical analysis of muscle tissue, the glycogen content of which was typically increased. Investigation of the patient's kindred showed that his 25-year-old sister was also affected. This report sets out to show that in adolescence and in adult life myopathy may be the leading symptom of the disease. Besides the clinical symptoms of muscle weakness and stiffness, an increase in serum creatine kinase usually is found. While an increase in the glycogen content of skeletal muscle has been known since the first description of this glycogen storage disease, it was believed that the glycogen deposits do not cause a clinically relevant disturbance of muscle function. A review of the literature and our own observations show that this assumption has to be at least partially revised. In patients with unclear myopathy who had hepatomegaly during childhood the possibility of glycogenosis due to amylo-1,6-glucosidase deficiency should be considered, especially if symptoms of hypoglycemia are reported. In the patient as well as in his sister marked kyphoscoliosis was present. Whether there is a connection between skeletal deformity and enzyme defect cannot be determined as the patients were available for further studies.

Adult↗

PubMed1982

[Treatment of glycogenosis type III with total parenteral nutrition, continuous intragastric infusion and D-thyroxine].

A 4-year-old patient with glycogenosis type III suffered from hypoglycemic attacks during the night and from an enormous hepatomegaly. The latter was the cause of a life-threatening respiratory insufficiency. Shrinkage of the liver size was an urgent necessity. The beneficial influences of total parenteral nutrition, continuous intragastric infusion during the night, and of D-tyhroxin are described.

Blood Glucose↗

PubMed1982

Ultrastructure of the eye in fetal type II glycogenosis (Pompe's disease).

Type II glycogenosis is an autosomal recessive storage disease characterized by absence of the enzyme acid alpha-1,4-glucosidase. The eye of a 16 week fetus, aborted after diagnosis by amniocentesis, was studied by light and electron microscopy. Extensive deposits of lysosomal and cytoplasmic glycogen were present in virtually all ocular tissues examined, with the notable exception of pigment epithelia (iris and retina). The massive glycogen deposits present in this, the youngest case thus far examined histologically, emphasize the involvement of the fetus from its earliest stages and the importance of prenatal diagnosis.

Eye↗

PubMed1995

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

An autosomal recessive deficiency of acid alpha-glucosidase (GAA), type II glycogenosis, is genetically and clinically heterogeneous. The discovery of an enzyme-inactivating genomic deletion of exon 18 in three unrelated genetic compound patients--two infants and an adult--provided a rare opportunity to analyze the effect of the second mutation in patients who displayed dramatically different phenotypes. A deletion of Lys-903 in one patient and a substitution of Arg for Leu-299 in another resulted in the fatal infantile form. In the adult, a T-to-G base change at position -13 of intron 1 resulted in alternatively spliced transcripts with deletion of exon 2, the location of the start codon. The low level of active enzyme (12% of normal) generated from the leakage of normally spliced mRNA sustained the patient to adult life.

Adult↗