1/7. A case of galactosialidosis.Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, caused by a defect of another lysosomal protein, the protective protein. Three subtypes are recognized: the early infantile form, the late infantile form and the juvenile/adult form. We saw a patient with galactosialidosis of the juvenile/adult form, a 51-year-old Japanese man with angiokeratomas on both elbows and knees, myoclonus, ataxia, mental retardation and macular cherry-red spots. An electron-microscopic study of a skin biopsy showed membrane-limited vacuoles in the cytoplasm of the endothelial cells, pericytes and fibroblasts. Assays of enzymatic activity in cultured fibroblasts showed a marked decrease in both beta-galactosidase and neuraminidase (sialidase). The substance contained in the cytoplasmic vacuoles appears to be glycoproteins with sialic acid, which is a terminal glycosyl residue, because the cytoplasm of the endothelial cells of the vessels and pericytes are stained by the Limax flavus agglutinin, a lectin that binds specifically with sialic acid. This technology may be useful for easy investigation of the distribution of the accumulation of such substances in the central nervous system.- - - - - - - - - - ranking = 1keywords = lysosomal storage, storage (Clic here for more details about this article) |
2/7. Misdiagnosis of fabry disease: importance of biochemical confirmation of clinical or pathological suspicion.Generalized angiokeratoma are associated with three lysosomal storage disorders, one of which is fabry disease (alpha-galactosidase A deficiency). Treatment for fabry disease with supplementation of recombinant enzyme is available in the european union and subsequently physicians' awareness may rise. A patient who was erroneously diagnosed with fabry disease is presented.- - - - - - - - - - ranking = 1.0006778964502keywords = lysosomal storage, storage, enzyme (Clic here for more details about this article) |
3/7. fabry disease: an atypical presentation.fabry disease is a rare X-linked recessive lysosomal storage disease. patients typically have angiokeratomas distributed between the umbilicus and knees, painful crises of the hands and feet, and renal, ophthalmologic, and cardiac abnormalities. An 11-year-old boy presented with a 6-year history of widespread petechial-like lesions and painful crises of the hands and feet. On physical examination, he had numerous erythematous, nonblanching pinpoint macules and rare papules with an overlying crust. These lesions were widely distributed on his trunk, palms, and soles, while sparing the area between the umbilicus and knees. Histologic evaluation of one of these lesions found several dilated, blood-filled vessels in the upper dermis beneath a thinned epidermis. The patient also had markedly decreased alpha galactosidase A levels. Although the distribution of the angiokeratomas was atypical, the clinical and histologic findings were consistent with a diagnosis of fabry disease.- - - - - - - - - - ranking = 1keywords = lysosomal storage, storage (Clic here for more details about this article) |
4/7. Clinical and molecular characterization of an extended family with fabry disease.OBJECTIVE: To characterize clinical manifestations, biochemical changes, mutation of alpha-galactosidase (alpha-Gal A) gene A (GLA), and functional capability of mutant protein. MATERIAL AND METHOD: Seventeen subjects from a family with a newly diagnosed patient with fabry disease were enrolled in the present study. In each individual, clinical history, physical examination, leukocyte enzyme activity of alpha-Gal A, and mutation analysis were performed. Those with a mutation were further investigated by ophthalmological and audiological evaluations, electrocardiography, echocardiogram, urinalysis, and blood tests to determine renal insufficiency. Expression study of the mutant protein was performed using a pichia pastoris expression system. RESULTS: Four affected males and five symptomatic female carriers were identified. Clinical manifestations included severe neuropathic pain, acroparesthesia, hypo-/hyper-hidrosis, frequent syncope, ischemic stroke, cardiac hypertrophy, corneal dystrophy and cart-wheel cataract, high frequency sensorineural hearing loss, periorbital edema and subcutaneous edema over hands and interphalangeal joints. None had angiokeratoma or renal symptoms. The authors identified a novel mutation, p.L106R, in the GLA gene. Recombinant expression of the mutant protein gave little or no enzyme activity compared to the normal protein. CONCLUSION: There were intrafamilial clinical variabilities, but consistent findings of the absence of angiokeratoma and renal symptoms, which could represent a unique feature of this particular mutation.- - - - - - - - - - ranking = 0.0013557929004996keywords = enzyme (Clic here for more details about this article) |
5/7. Pseudo-clinical Fabry's disease without alpha galactosidase deficiency.The authors describe two cases of clinical Fabry's disease. The first patient presents a deficiency of alpha galactosidase and a urinary excretion of ceramide trihexosides and dihexosides ; the second patient had a normal alpha galactosidase and normal excretion of urinary lipids. In this latter case the Km and the activity of the enzyme measured at different pH were similar to those of normal enzyme. The other lysosomal enzymes, beta galactosidase, beta glucosidase, hexosaminidases A and B, alpha fucosidase, arylsulfatases, phosphatase acids were also measured in patient 2 and all have normal activities. There is no urinary excretion of glycolipids or mucopolysaccharides. Yet this patient has an accumulation of material in his fibroblasts and renal cells. The authors also present a genetic study.- - - - - - - - - - ranking = 0.0020336893507494keywords = enzyme (Clic here for more details about this article) |
6/7. Widespread angiokeratomas and tuberous sclerosis.We report a 29-year-old woman who had prominent cutaneous markers of tuberous sclerosis, with subependymal nodules and renal cysts on computerized tomographic scan, who also showed multiple angiokeratomas widely distributed on the buttocks and posterior thighs. Enzymatic studies ruled out Fabry's disease and other lysosomal storage disorders. This is the first reported association of widespread angiokeratomas and tuberous sclerosis.- - - - - - - - - - ranking = 1keywords = lysosomal storage, storage (Clic here for more details about this article) |
7/7. Blue rubber bleb nevus syndrome associated with diffuse angiokeratoma.We report a case of the association of blue rubber bleb nevus syndrome with diffuse angiokeratoma, without any evidence of enzyme deficiencies. The lesions of both disorders had a late-onset appearance.- - - - - - - - - - ranking = 0.0006778964502498keywords = enzyme (Clic here for more details about this article) |