Glycoprotein Catabolism in Brain Tissue in the Lysosomal Enzyme Deficiency Diseases

1976 ◽  
pp. 31-48 ◽  
Author(s):  
Eric G. Brunngraber ◽  
Leonard G. Davis ◽  
Javaid I. Javaid ◽  
Bruno Berra
Keyword(s):  
Brain Tissue ◽  
Lysosomal Enzyme ◽  
Enzyme Deficiency ◽  
Deficiency Diseases

scholarly journals Anderson-Fabry Disease in Females

2015 ◽  
Vol 12 (1) ◽  
pp. 20-26 ◽  
Author(s):  
Petar Kes ◽  
Vesna Furic-Curko ◽  
Nikolina Basic-Jukic
Keyword(s):  
Fabry Disease ◽  
Lysosomal Storage Disease ◽  
Lysosomal Enzyme ◽  
Storage Disease ◽  
Signs And Symptoms ◽  
Organ Damage ◽  
Enzyme Deficiency ◽  
Diagnostic Approach ◽  
Lysosomal Storage ◽  
Globotriaosyl Ceramide

AbstractAnderson-Fabry disease (AFD) is the second most common lysosomal storage disease. This is an X-linked disorder due to lysosomal enzyme deficiency of a-galac-tosidasae A, that results in accumulation of globotriaosyl-ceramide in various tissues leading to organ damage, and resulting in a variety of cardiovascular, renal, neural, der-matological, psychological signs and symptoms. Despite being X-linked, heterozygous females can suffer from symptoms equally severe as male hemizygotes. This paper presents signs, symptoms, specific diagnostic approach and treatment possibilities of AFD in female patients.

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