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)

Information provided by the follow-up of a family in which Anderson--Fabry disease segregates, together with a family reported by Ropers et al. (1977), negates the previous evidence of a probable linkage between alpha GALA and Xg.
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PMID:Linkage relationship of the loci for Anderson--Fabry disease and the Xg blood groups. 627 51

Fabry's disease is one of the lysosomal disorders. It is due to a hereditary alpha-galactosidase A defect with X-linked recessive transmission. A majority of hemizygotes develop severe multisystemic involvement (classic form), dominated by relentless renal failure and progressive neurological and cardiac lesions. Nevertheless, some affected individuals retain sufficient enzyme activity and long remain asymptomatic (atypical form); their main manifestation is hypertrophic cardiomyopathy. Female carriers are usually asymptomatic; 15%, however, have severe involvement of one or more organs. Laboratory, histological and molecular diagnosis identifies 100% of hemizygotes and over 80% of heterozygotes. With recent developments in molecular genetics it is possible to produce the human recombinant enzyme alpha-GALA. Its effects in hemizygous patients remain to be evaluated. In addition, the results of a trial of gene therapy in a Fabry's disease gene knocked-out mouse appear promising. These new therapeutic approaches will probably soon provide substitutive treatment for Fabry's disease as well as for so-called "orphan" diseases.
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PMID:[Fabry disease: clinical aspects and therapeutic perspectives]. 1090 84

Fabry disease is an X-linked lysosomal storage disorder caused by the deficiency of alpha-galactosidase A that results in the accumulation of neutral sphingolipids. We report a novel point mutation in exon 6, Q279K, carried by an asymptomatic child with a family history of classic Fabry disease. Moreover, we comparatively study the in vitro expression and enzyme activity of Q279K and three other already described mutants in glutamine 279. The Q279K, Q279H and Q279R mutants transfected in COS-1 cells expressed no activity while the residual enzyme activity of the Q279E mutant represented 10% of wild type value. Western blot analysis demonstrated a differential behavior of the mutant proteins: Q279K and Q279H persisted as the inactive 50-kD precursor, indicating that these mutations may affect the normal processing of the enzyme, while the Q279R mutant was not detected probably due to an unstable protein which is rapidly degraded. The in vitro expression studies of the novel Q279K mutation were confirmed by Western blot analysis performed in the patient's lymphocytes which revealed the alpha-galactosidase A precursor of 50 kD but not the processed form.
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PMID:Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A protein. 1529 7