1/13. adult polyglucosan body disease: a postmortem correlation study.autopsy of a 50-year-old woman with adult polyglucosan body disease and missense mutations (Arg515His, Arg524Gln) in the glycogen branching enzyme gene (GBE) revealed accumulation of polyglucosan bodies in the heart, brain, and nerve. GBE activity was decreased in the morphologically affected tissues but was normal in unaffected tissues. GBE mRNA transcripts were similar in all tissues and in controls, which confirms the lack of tissue-specific GBE isoforms.- - - - - - - - - - ranking = 1keywords = glycogen (Clic here for more details about this article) |
2/13. Echocardiographic evidence of outflow tract obstruction in Pompe's disease (glycogen storage disease of the heart).A 7 month old black female infant with the clinical findings of Pompe's disease is presented. The diagnosis of an infiltrative myocardiopathy with left ventricular outflow tract obstruction presenting with a pronounced systolic anterior motion of the anterior mitral valve leaflet was made by echocardiography. This diagnosis was confirmed by cardiac catheterization and angiocardiography. Pathologic findings were consistent with Pompe's disease (type II glycogen storage disease). The presence of systolic anterior motion of the mitral valve in this patient suggests that this finding is not pathognomonic of idiopathic hypertrophic subaortic stenosis.- - - - - - - - - - ranking = 110.78514477654keywords = glycogen storage disease, glycogen storage, storage disease, glycogen, storage (Clic here for more details about this article) |
3/13. fabry disease female proband with clinical manifestations similar to hypertrophic cardiomyopathy.Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism, resulting from a deficiency in alpha-galactosidase A (alpha-Gal A). A 56-year-old Japanese woman was at first suspected of having hypertrophic cardiomyopathy. The patient and her son had alpha-Gal A activity in leukocytes that was remarkably below the limit of controls. dna analysis of the alpha-Gal A gene revealed a novel missense mutation at codon 19 in exon 1, resulting in leucine-to-proline substitution. As a result she was confirmed as a classic Fabry heterozygote. Recent advances in enzyme replacement therapy can reverse the storage of glycosphingolipids in Fabry's disease. Thus, in patients with cardiac hypertrophy, it is important to differentiate Fabry's disease from other causes of hypertrophy. Therefore, it is necessary to measure alpha-Gal A activity in all suspected cases and to analyze genetic abnormalities in heterozygotes.- - - - - - - - - - ranking = 0.19450672548978keywords = storage (Clic here for more details about this article) |
4/13. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.Fatal congenital nonlysosomal cardiac glycogenosis has been attributed to a subtype of phosphorylase kinase deficiency, but the underlying genes and mutations have not been identified. Analyzing four sporadic, unrelated patients, we found no mutations either in the eight genes encoding phosphorylase kinase subunits or in the two genes encoding the muscle and brain isoforms of glycogen phosphorylase. However, in three of five patients, we identified identical heterozygous R531Q missense mutations of the PRKAG2 gene, which encodes the gamma 2-subunit of AMP-activated protein kinase, a key regulator of energy balance. Biochemical characterization of the recombinant R531Q mutant protein showed >100-fold reduction of binding affinities for the regulatory nucleotides AMP and ATP but an enhanced basal activity and increased phosphorylation of the alpha -subunit. Other PRKAG2 missense mutations were previously identified in patients with autosomal dominant hypertrophic cardiomyopathy with wolff-parkinson-white syndrome, characterized by juvenile-to-adult clinical onset, moderate cardiac glycogenosis, disturbed excitation conduction, risk of sudden cardiac death in midlife, and molecular perturbations that are similar to--but less severe than--those observed for the R531Q mutation. Thus, recurrent heterozygous R531Q missense mutations in PRKAG2 give rise to a massive nonlysosomal cardiac glycogenosis of fetal symptomatic onset and rapidly fatal course, constituting a genotypically and clinically distinct variant of hypertrophic cardiomyopathy with wolff-parkinson-white syndrome. R531Q and other PRKAG2 mutations enhance the basal activity and alpha -subunit phosphorylation of AMP-activated protein kinase, explaining the dominant nature of PRKAG2 disease mutations. Since not all cases displayed PRKAG2 mutations, fatal congenital nonlysosomal cardiac glycogenosis seems to be genetically heterogeneous. However, the existence of a heart-specific primary phosphorylase kinase deficiency is questionable, because no phosphorylase kinase mutations were found.- - - - - - - - - - ranking = 9keywords = glycogen (Clic here for more details about this article) |
5/13. Acquired von Willebrand disease type IIA in patients with aortic valve stenosis.The authors report the case of a 72-year-old woman with severe aortic stenosis who had a bleeding tendency develop due to type IIA acquired von Willebrand disease. She underwent aortic valve replacement with a 19-mm Freestyle stentless valve (Medtronic Inc, Minneapolis, MN). The postoperative course was uneventful and the bleeding tendency resolved. A review of this operative case from our institution demonstrated that aortic valve replacement was one of the most effective treatments of this disease, which can be potentially lifesaving.- - - - - - - - - - ranking = 8.1317106033533keywords = disease type (Clic here for more details about this article) |
6/13. Echocardiographic and pulsed Doppler features in glycogen storage disease type ii of the heart (Pompe's disease).Two cases of cardiac glycogen storage disease type ii are described: the first one, male aged 3 months, presented with generalized muscular hypotonia and decreased deep tendon reflexes; a 2/6 systolic murmur was audible at the left sternal border; chest X-ray and ECG were consistent with left ventricular hypertrophy; an echocardiogram disclosed an impressive and diffuse cardiac hypertrophy; the pump function appeared preserved and the estimated ejection fraction was about 70%. Pulsed wave Doppler demonstrated a normal envelope of mitral flow with E/A ratio = 1.27 in averaged 20 beats. The patient died suddenly at 6 months of age. The second patient was a female 4 months old with generalized muscular hypotonia. ECG and chest X-ray were consistent with left ventricular hypertrophy; 2D echocardiogram showed diffuse hypertrophy with estimated ejection fraction of 68% and an almost normal aspect of the mitral flow curve, with E/A ratio of 1.18. This child died at 13 months of age of cardiopulmonary insufficiency. In both cases the diagnosis was made by muscular biopsy and biochemical tests (alpha 1-4 glucosidase deficiency). We stress the fact that, despite the severe and diffuse hypertrophy, the pump function and the ventricular filling did not seem compromised.- - - - - - - - - - ranking = 311.98901960469keywords = glycogen storage disease type, glycogen storage disease, storage disease type, glycogen storage, disease type, storage disease, glycogen, storage (Clic here for more details about this article) |
7/13. Ethanolaminosis. A newly recognized, generalized storage disease with cardiomegaly, cerebral dysfunction and early death.A storage disease with cardiomegaly, generalized muscular hypotonia, cerebral dysfunction, failure to thrive and early death is described in two siblings. The first one died at the age of 10 months, the second at the age of 17 months. The symptoms were mainly due to lysosomal storage of a substance which had a positive reaction to PAS and Best's stain and which was resistant to diastase. This substance was stored in nearly all the organs, especially in the heart, liver, spleen and less in the brain and skeletal muscles. An increased renal excretion of ethanolamine, a greatly increased hepatic concentration of ethanolamine and diminished hepatic ethanolamine kinase activity could be demonstrated. ethanolamine is essential for the synthesis of phospholipids. Both parents showed increased renal excretion of taurine. In several aspects, this syndrome is similar to the glycogenosis type II described by Pompe.- - - - - - - - - - ranking = 12.314883338529keywords = storage disease, glycogen, storage (Clic here for more details about this article) |
8/13. Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form.We describe the clinical findings over the first 18 years of a patient with a novel phenotype for galactosialidosis, the storage disease produced by the combined deficiency of beta-galactosidase and neuraminidase. Clinical findings in the first few months included somewhat unusual appearance and hepatosplenomegaly. Dysostosis multiplex was evident by age 2 1/2 years. Mitral and aortic valvular disease appeared over the next few years and cardiac disease has become the most important clinical problem. foam cells were present in the bone marrow, and vacuolated lymphocytes were present in the peripheral blood smear. The patient had no neurological symptoms, cherry red spots, or intellectual deterioration during the first 18 years. Evidence presented elsewhere indicates that the basic defect in this late infantile form of galactosialidosis (as is thought to be true for the other forms of galactosialidosis) is a reduced amount of the 32 kDa phosphoglycoprotein which associates with beta-galactosidase and alpha-neuraminidase in lysosomes.- - - - - - - - - - ranking = 2.2240753226078keywords = storage disease, storage (Clic here for more details about this article) |
9/13. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy.Fabry's disease was diagnosed in an adult patient as a lipid storage-induced non-obstructive hypertrophic cardiomyopathy. Stable angina pectoris started 15 years before death, was followed by slowly progressive heart failure and repeated pulmonary thromboembolism with death at 63 years. autopsy disclosed enormous cardiomegaly (1100 g), cardiac storage of ceramide trihexoside (CTH) of the same intensity as in classical cases of generalized Fabry's disease (11 mg lipid/g wet weight) restricted to cardiocytes. Other tissues (liver, kidney, brain, pancreas, pulmonary artery, coronary arteries) were free of storage. Using proton magnetic resonance analysis on formaldehyde-fixed tissue the stored CTH was identified as globotriaosylceramide. It was enzymatically degradable by control cell cultures but left uncleaved by mutant reference Fabry cells. alpha-galactosidase activities in peripheral leucocytes of all four of the patient's daughters were in the heterozygous range. The diagnostic difficulties in this monosymptomatic novel variant of Fabry's disease are stressed.- - - - - - - - - - ranking = 1.3615470784284keywords = storage (Clic here for more details about this article) |
10/13. Cardiac MR imaging in Pompe disease.The magnetic resonance (MR) imaging findings in a 5-month-old infant with glycogen storage disease of the heart revealed hypertrophy of the right and left ventricles and the interventricular septum with an irregular inhomogeneous appearance of the myocardium. The descriptive features of the MR study are correlated with cardiac angiography and echocardiography in Pompe disease.- - - - - - - - - - ranking = 22.157028955309keywords = glycogen storage disease, glycogen storage, storage disease, glycogen, storage (Clic here for more details about this article) |
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