Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “GLYCOGENOSIS”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 109 records · Page 6Linked to original sources
PubMed1976

An especially mild myopathic form of glycogenosis type II. Problems of clinical and light microscopic diagnosis.

Report of a 20 months old child showing a mild form of glycogenosis type II (POMPE, 1932) with preferential involvement of skeletal muscle. First muscle biopsy reveals, on light microscopic examination, only a mild vacuolar myopathy. By PAS-staining pathologic glycogen storage can be shown. Glycogenosis type II is proved by ultrastructural and biochemical studies of muscle tissue obtained by a second biopsy. Consequently in all cases of a floppy infant syndrome with myopathic features it is necessary to obtain tissue for biochemical and ultrastructural analysis and to carry out these techniques if by light microscopic examination a vacuolar myopathy with increase of glycogen is found.

Adenosine Triphosphatases↗
PubMedDate not supplied

[Study of glycogen metabolism in the liver in type III glycogenosis (limit dextrinosis)].

Data on biochemical study of a patient with glycogenosis of the III type (limit dextrinosis) are presented. In a punctate of liver tissue absence of amylo-1,6-glucosidase activity and significant accumulation of glycogen, which was anomalous in structure, were noted. Loading with galactose and adrenaline caused alterations typical for the III type of glycogenosis. Content of glucose and lactate in blood were also studied in response to the peroral administration of glucose and protein. In erythrocytes of the patient the polysaccharide structure was shown to be anomalous; it resembled the structure of a polysaccharide from liver tissue of the patient.

Biopsy, Needle↗
PubMedDate not supplied

[Nutritional management of glycogenosis].

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.

Body Height↗
PubMed1977

Creatine kinase and lactate dehydrogenase in type 2 glycogenosis (Pompe disease).

At least three varieties of type 2 glycogenosis (Pompe disease) have been described, the most severe of which is an infantile form. The relationship between clinical manifestations, glycogen accumulation, and tissue damage has not been established. Serum levels of creatine kinase (CK [EC 2.7.3.2 adenosine triphosphate:creatine phosphotransferase]) lactate dehydrogenase (LDH [EC 1.1.1.27 L-lactate:NAD oxidoreductase]) and their isoenzyme fractions were used to identify and monitor myocardial damage in this study of an infant with type 2 glycogenosis diagnosed by light microscopy and tissue enzyme assay.

Creatine Kinase↗
PubMed1989

Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins.

The molecular nature of lysosomal alpha-glucosidase deficiency was studied in five South African families with glycogenosis type II. Distinct ethnic origins were represented. Two new mutant acid alpha-glucosidase alleles were discovered. In two infantile patients from a consanguineous Indian family we found for the first time an acid alpha-glucosidase precursor of reduced size. The mutant precursor appeared normally glycosylated and phosphorylated but was not processed to mature enzyme. Abnormalities of the mRNA were not obvious, but digestion of genomic DNA with HindIII, BglII, and StuI revealed for each enzyme a fragment of increased length. Heterozygosity was demonstrated in the parents. Complete lack of acid alpha-glucosidase mRNA, as well as deficiency of precursor synthesis, was observed in two black baby girls from unrelated families. In these cases the length of all restriction-enzyme fragments was normal. Reduced enzyme synthesis but normal processing was registered in juvenile and young adult Cape colored patients. The extensive heterogeneity of glycogenosis type II is emphasized in these studies on various ethnic groups. The newly discovered mutants are valuable for the understanding of clinical diversity as a result of allelic variation.

Adolescent↗
PubMed1978

[Generalized glycogenosis (Pompe's disease) in an 11-year-old girl].

A case of cardiomegalic glycogenosis in a girl of 11 is described. The autopsy revealed cardial hypertrophy, hepatomegaly and enlargement of the kidneys. Histologically, diffuse accumulation of glycogen in the heart muscle, liver, epithelium of the convoluted tubules of the kidneys and in skeletal muscles was demonstrated. The features of the observation include the long-term course of the disease and combination of cardiomegalic glycogenosis with hepato-renal manifestations of enzymopathies.

Autopsy↗
PubMed1978

Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys.

Four boys, aged 2 years 5 months to 3 years 7 months, with large hepatomegaly due to phosphorylase-kinase deficiency glycogenosis, were given a trial of sodium dextrothyroxine (D-T4) at a mean dose of 0.165 mg/kg/day for an average period of 6 months. Phosphorylase-kinase was undetectable in the haemolysates of erythrocytes (3 patients) or in the liver (one patient) before, and still undetectable in the haemolysates of the four patients during treatment, thus pointing to X-linked phosphorylase-kinase deficiency glycogen storage disease (GSD IXb). D-T4 administration resulted in complete normalization of liver size, decrease of serum GOT (p less than 0.02), GPT (p less than 0.05) and triglycerides (p less than 0.01) to normal values, as well as correction of mild asymptomatic hypoglycemia (p less than 0.01). As long as the outcome of type IXb glycogenosis in adult life remains undefined, dextrothyroxine therapy seems an effective means of reducing liver size and correcting part of the biochemical abnormalities of the disease.

Alanine Transaminase↗
PubMed1979

Nervous system involvement in type IV glycogenosis.

A 30-month-old girl exhibited the 19th known case of type IV glycogenosis. Extensive involvement of the nervous system was found at autopsy. This represents only the second patient in whom the fine structure of the CNS and skeletal muscle has been described. We have also identified the abnormal polysaccharide in peripheral nerve, a finding that, to our knowledge, has not been reported previously. Our review of the literature indicates that approximately 50% of these patients exhibit signs or symptoms referable to the neuromuscular system. Most clinical and pathologic studies have focused on the severe liver involvement; insufficient attention has been directed toward the nervous system. This emphasizes the need for more detailed neurologic and neuropathologic examinations of children with type IV glycogenosis.

Age Factors↗
PubMedDate not supplied

[Glycogenosis type II, infantile variant. Report of a case and review of the literature].

A case of glycogenosis type II infantile onset (Pompe's disease) is presented, and the literature is reviewed in order to establish the basis of the diagnostic suspect. We studied an 8-month old female with muscular weakness--and cardiac failure. The chest X-ray: cardiomegaly; electrocardiogram: PR interval of 0.06 seconds, gigant QRS complexes, biventricular hypertrophy, and the echocardiogram and cineangiography: left ventricle hypertrophy and hypokinesia. The patient died because of refractory heart failure. Histochemical examination demonstrated excessive intracellular accumulation of glycogen. Also, in the muscle, the kidneys and the liver we did not find any alpha 1,4 glucosidase. Then, the diagnosis of glycogenosis type II infantile onset was established. Finally, we conclude that this disease should be suspected in every infant with muscular weakness, cardiac failure, cardiomegaly, electrocardiogram with shortness of PR interval, gigant QRS complexes and biventricular hypertrophy, and that needs to be confirmed by muscle biopsy. At the moment, there has not been reported any case of Pompe's disease in the Mexican literature.

Echocardiography↗
PubMed1988

Erythrocyte glycolysis and its marked alterations by muscular exercise in type VII glycogenosis.

Levels of erythrocyte glycolytic intermediates after the phosphofructokinase (PFK) step, including 2,3-bisphosphoglycerate (2,3-DPG), were decreased at rest in patients from separate families with type VII glycogenosis. The concentration of 2,3-DPG was about half of the normal control value during a period of unrestricted daily activity but was further decreased to one third of normal after a one-day bed rest. Mild ergometric exercise rapidly increased the levels of fructose-1,6-bisphosphate, dihydroxyacetone phosphate plus glyceraldehyde-3-phosphate, and 2,3-DPG in patients' circulating erythrocytes but did not in those of normal subjects. This indicated that a crossover point at the PFK step in glycolysis disappeared after physical exercise and, consequently, the 2,3-DPG concentration, which had decreased because of blockage of the PFK step, was restored considerably. This apparently exercise-related alteration in intermediary metabolism at the beginning of glycolysis was reproduced in vitro by incubating normal erythrocytes in the presence of inosine or ammonia, both of which have increased levels in circulating blood during and after exercise in this disorder. We conclude that physical activity in addition to a genetic deficiency in erythrocyte PFK affects glycolysis in erythrocytes in type VII glycogenosis and that myogenic factors released from exercising muscles may be responsible for this change.

2,3-Diphosphoglycerate↗
PubMedDate not supplied

[Disordered glucose-6-phosphate transport as a possible cause of glycogenosis type Ib].

More than ten patients with glycogen-storage disease, which were classified as patients with glycogenosis of the I type--deficiency in glucose-6-phosphatase) on the basis of clinical data and biochemical analyses in vivo, were detected within the last few years. But activity of glucose-6-phosphatase was found to be normal in biopsy of samples of the liver tissue obtained from these patients. This disease was termed as glycogenosis of the Ib type. A hypothesis is advanced, according to which the discrepancy in data on biochemical study of the patients in vivo and in vitro is due to absence of a specific permease in liver tissue, which transfers glucose-6-phosphate from cytosol onto the innesurface of membranes of cytoplasmic network, where glucose-6-phosphatase is located.

Adolescent↗
PubMed1978

[EMG-findings in typ-II-glycogenosis (Pompe's disease, acid maltase deficiency) (author's transl)].

EMG findings of two patients (one 43 years old male; one 47 years old female) with Typ-II-glycogenosis are referred. The diagnosis is proofed by enzym histochemical, ultrastructural and biochemical investigations. The EMG findings were characterized by vivacious spontaneous activity and the high rate of different EMG pattern in one patient. Beside myopathic patterns existed neurogenic patterns and spontaneous activities as pseudomyotonic discharges, fibrillations and positive sharp-waves. Case I showed myotonic discharges too. These EMG findings are compared with the histological findings. Signs of differentiation between myotonic and pseudomyotonic discharges especially in view of Typ II glycogenosis is discussed. The EMG findings of the two investigated patients are compared with others of the literature.

Adult↗
PubMed1983

Type Ic, a novel glycogenosis. Underlying mechanism.

The availability of a fresh, unfrozen liver biopsy specimen permitted the characterization of a unique type of glycogen storage disease. The subject, an 11-year-old female, showed the classic clinical symptoms of type I glycogenosis. However, her hepatic D-glucose-6-phosphate phosphohydrolase (EC 3.1.3.9) level as determined with detergent-activated homogenate was normal. The underlying mechanism was studied with intact microsomes from this fresh liver homogenate. Glucose-6-P phosphohydrolase was 75% latent, compared with 25% in normal controls matched for age and sex. Inorganic pyrophosphatase, PPi:glucose phosphotransferase, and carbamyl-P:glucose phosphotransferase activities of glucose 6-phosphatase were totally latent. While not observed with intact microsomes, these activities were fully manifested with detergent-disrupted microsomes. D-Glucose inhibited glucose-6-P phosphohydrolase activity of both intact and disrupted microsomes, but exogenous Pi inhibited only with the detergent-disrupted preparation. These observations are interpreted on the basis of the multicomponent glucose 6-phosphatase system of Arion et al. (Arion, W. J., Lange, A. J., Walls, H. E., and Ballas, L. M. (1980) J. Biol. Chem. 255, 10396-10406). All are consistent with a defect in T2, the putative translocase specific for Pi, PPi, and carbamyl-P. However, Pi produced endogenously from glucose-6-P hydrolysis within the microsomal lumen did not inhibit. This suggests that (i) a pathway for egress of Pi from the microsomal lumen exists independently of T2, (ii) T2 in this case works only unidirectionally, or (iii) the catalytic unit of glucose 6-phosphatase in situ has become desensitized to interactions with Pi, PPi, and carbamyl-P in this mutant model. Defects in both T1, the translocase specific for glucose-6-P, and T2 thus appear involved in this unique glycogenosis.

Child↗
PubMed1982

[WPW syndrome combined with AV block 2 in an adult with glycogenosis (Type II)].

A 31 year-old female with a five year history of muscle weakness, cardiac palpitations and elevation of activity of some serum enzymes of muscular origin, showed signs of the WPW syndrome on ECG, often in combination with grade 2 A-V block. Type II glycogenosis (Pompe's disease) was diagnosed on the basis of the results of physical examination, laboratory findings--especially subtotal deficiency of acid maltase (a-1,4 glucosidase) activity-and morphological aspects of light and electron microscopy of a quadriceps muscle biopsy specimen. To our knowledge the coincidence of such a rarely encountered arrhythmia with glycogenosis type II in an adult has never been reported so far.

Adult↗
PubMed1982

[Late manifestation of glycogenosis I in early adulthood].

Mild forms of glucose-6-phosphatase deficiency (glycogenosis type I) may remain undetected till indirect consequences of the metabolic bloc clarify the diagnosis in early adulthood. Since humoral regulation could play a decisive role in the metabolic adaption to hypoglycemia, caused by the enzyme deficiency, we studied insulin-, glucocorticoid-, catecholamine- and somatotropin-secretion in a 27 year old man with a mild glycogenosis type I. Basal and simulated insulin release was decreased, the glucocorticoid secretion lay in the lowest part of the normal range, whereas catecholamine and somatotropin secretion showed no significant change. Thus, the humoral adaption in glucose-6-phosphate deficiency corresponds to the hormonal regulation in prolonged starvation.

Adult↗
PubMed1982

[Late manifestations of glycogenosis 1 in early adulthood].

Mild forms of glucose-6-phosphatase deficiency (glycogenosis type I) may remain undetected till indirect consequences of the metabolic bloc clarify the diagnosis in early adulthood. Since humoral regulation could play a decisive role in the metabolic adaption to hypoglycemia, caused by the enzyme deficiency, we studied insulin-, glucocorticoid-, catecholamine-and somatotropin-secretion in a 27 year old man with a mild glycogenosis type I. Basal and stimulated insulin release was decreased, the glucocorticoid secretion lay in the lowest part of the normal range, whereas catecholamine and somatotropin secretion showed no significant change. Thus, the humoral adaption in glucose-6-phosphatase deficiency corresponds to the hormonal regulation in prolonged starvation.

Adult↗
PubMedDate not supplied

Type I glycogenosis with renal tubular dysfunction (presentation of two cases).

Two patients with hepatic glycogenosis associated with Fanconi syndrome are presented. Both patients were treated with a neutral phosphorus solution, an oral alkaline solution, cholecalciferol and uncooked cornstarch. The proximal renal tubular functions were corrected in the patient who used cornstarch properly, which may indicate a causal relationship between Fanconi syndrome and glycogenosis.

Administration, Oral↗
PubMedDate not supplied

[Hepatic glycogenosis in childhood: clinical and laboratory findings in 20 patients].

We studied 20 children with a clinical picture and laboratory study suggestive of hepatic glycogenosis. The age of the beginning of symptoms varied from birth to 24 months and the age at the diagnosis varied from 2 to 81 months. Hepatomegaly was found in all patients, diarrhea in 65% (13/26), "doll-face" in 55% (11/20) and convulsions in 50% (10/20). Nutritional evaluation showed more height deficiency than weight deficiency. Laboratory tests showed elevation of hepatic transaminases (12/19), hypercolesterolemia (8/14), hyperuricemia (6/17) and hypoglycemia (6/20). Liver function was not compromised in most of the cases. The results of glucagon tolerance test were variable. The histoenzymology study performed in 15 patients revealed the following results: Type VI (liver phosphorylase deficiency) in seven, Type I (glucose-6-phosphatase deficiency) in two, Type IV (brancher enzyme) in one and no conclusion could be drawn in five patients. The finding of hypoglycemia in few cases of this study can be justified by the few number of glycogenosis Type I, probably due to the fact that this type is the most easily diagnosed, with less necessity of referring them to specialized centers.

Body Height↗