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 female case of angiokeratoma corporis diffusum without systemic involvement, with alpha-galactosidase A activity in the normal range, alpha-L-fucosidase in the lower levels of the normal range, and a few amount of urinary sialic acid is reported. Some problem about differential diagnosis with inherited disorders as Fabry's disease, fucosidosis, sialidosis is discussed. Although cases of angiokeratoma corporis diffusum without any underlying enzyme defect have been reported, we believe that angiokeratoma corporis diffusum is always related to known or unknown enzymatic defect, which activities could result in the normal range probably in relation to enzymatic polymorphism.
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PMID:Angiocheratoma corporis diffusum with normal enzyme activities. 212 69

This paper reports the ultrastructural findings for the epidermis of biopsied skin specimens in numerous lysosomal diseases, which can be grouped as follows: a) presence of vacuolar lysosomal residual bodies in mucopolysaccharidoses I, II and III, Salla disease, GM1-gangliosidoses and infantile type II glycogenosis; b) avacuolar lysosomal residual bodies in Niemann-Pick disease type C, mucolipidosis IV, Farber disease, Fabry disease, and late infantile and juvenile neuronal ceroid-lipofuscinoses; c) absence of lysosomal residual bodies in GM2-gangliosidoses, metachromatic leukodystrophy, Gaucher disease and sialidosis type III. Whenever possible, a biopsy of the skin for morphological diagnosis of lysosomal disorders ought not to be confined to the epidermis.
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PMID:Intraepidermal morphologic manifestations in lysosomal diseases. 255 41

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 34-year-old man is described with angiokeratoma corporis diffusum. This eruption was once thought to be diagnostic of Anderson-Fabry disease; however, recent studies have shown that it may also occur in the enzyme disorders fucosidosis and sialidosis. In our patient with widespread angiokeratomas, the results of enzyme studies were normal, and there were no systemic problems or significant family history. Our case demonstrates that angiokeratoma corporis diffusum can occur in a benign form without systemic features.
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PMID:Angiokeratoma corporis diffusum in a patient with normal enzyme activities. 642 5

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

Lysosomal diseases represent a large group of genetic storage disorders characterized by a defect in the catabolism of complex molecules within the lysosome. Effective treatments are now possible for some of them given progresses in bone-marrow transplantation, enzyme replacement therapy and substrate reduction therapy. Neurologists and psychiatrists are concerned by these diseases because they can present in adolescence or adulthood with progressive neuropsychiatric signs. Here we focus on late-onset clinical forms which can be met in an adult neurology or psychiatric department. Lysosomal diseases were classified into 3 groups: (1) leukodystrophies (metachromatic leukodystrophy, Krabbe's disease and Salla's disease); (2) Neurodegenerative or psychiatric-like diseases (GM1 and GM2 gangliosidoses, Niemann Pick type C disease, sialidosis type I, ceroid-lipofuscinosis, mucopolysaccharidosis type III); (3) multisystemic diseases (Gaucher's disease, Fabry's disease, alpha and B mannosidosis, Niemann Pick disease type B, fucosidosis, Schindler/Kanzaki disease, and mucopolysaccharidosis type I and II. We propose a diagnostic approach guided by clinical examination, brain MRI, electrodiagnostic studies and abdominal echography.
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PMID:[Neurological presentations of lysosomal diseases in adult patients]. 1803 28