Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with severe deficiency of beta-galactosidase, who developed skin lesions of angiokeratoma corporis diffusum between the 3rd and 10th month of life, is described. The activity of other lysosomal enzymes, including alpha-neuraminidase, was normal. The first signs of the disease were noticed during the first month of life. By 3 months coarseness of the face and psychomotor retardation were present. In addition to angiokeratoma, he had large mongolian spots and several scattered slate-blue spots of pigmentation over his body. With the exception of the skin lesions, the other clinical signs and the course of the psychomotor deterioration were within the clinical picture of GM1 gangliosidosis, Type 1. Angiokeratoma, a manifestation of several lysosomal disorders, may appear in GM1 gangliosidosis during the first year of life.
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PMID:Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1. 250 16

A number of metabolic disorders are characterized by generalized angiokeratomas and neurologic dysfunction. Fabry's disease (angiokeratoma corporis diffusum universale) is an X-linked recessive disorder caused by a deficiency of alpha-galactosidase A. Fucosidosis is an autosomal recessive disorder caused by a lack of fucosidase. Sialidosis with deficiencies of neuraminidase and beta-galactosidase is the third important association.
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PMID:Metabolic disorders characterized by angiokeratomas and neurologic dysfunction. 311 2

A patient with combined deficiency of sialidase and beta-galactosidase is described. This now 39-year-old man, who is of Japanese origin, showed gradually progressive clinical features from the age of six years. Many of these features are commonly found in sialidosis type 2 or in GM1-gangliosidosis. Both sialidase and beta-galactosidase activities were deficient in leucocytes and cultured fibroblasts. Leucocytes of his mother showed activities of both enzymes in the lower limit of the control range. Morphologically, the pattern of storage products in a skin biopsy resembled in many respects that seen in GM1-gangliosidosis. Moreover, storage products which could be typical of sialidosis were also observed. Since the patient showed angiokeratomata, the morphological findings were compared with those specific to Fabry's disease, but no similarities were found. An enzymological diagnosis of the disease is most reliable on cultured fibroblasts, discriminating it from sialidosis type 2 and GM1-gangliosidosis. In view of recent findings, leucocytes seem to be less suitable for the establishment of the diagnosis galactosialidosis.
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PMID:Combined sialidase (neuraminidase) and beta-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient. 643 81

A method for staining of alpha-galactosidase with the synthetic substrate alpha-naphthyl-alpha-galactopyranoside after isoelectric focusing on gel slabs has been devised. Depending on the method used for cell extraction, at least seven isozymes could be detected in cell extracts of cultured fibroblasts from normal individuals. Thermal treatment revealed that both heat-stable and heat-labile isozymes occur in normal fibroblasts. The heat-labile isozymes were not detected in cells from Fabry hemizygotes and thus truly reflect products of the alpha-gal A locus. Three heat-stable isozymes observed in normal individuals were also found in Fabry heterozygotes and hemizygotes and are presumably determined by the alpha-gal B locus. The remaining isozymes were stained very weakly in the hemizygotes and were heat-stable. The relation of these isozymes to the A or B locus is uncertain. After treatment with neuraminidase the alpha-gal A isozymes could not be detected and one of the alpha-gal B isozymes appeared broader. The isozyme pattern observed in heterozygotes was almost identical to the normal one.
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PMID:alpha-Galactosidase isozymes in normal individuals, and in Fabry hemizygotes and heterozygotes. 677 88