Multiple Lysosomal Enzyme Deficiency Due to Enzyme Leakage?

1971 ◽  
Vol 284 (2) ◽  
pp. 109-110 ◽  
Keyword(s):  
Lysosomal Enzyme ◽  
Enzyme Deficiency ◽  
Enzyme Leakage

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.

Lysosomal enzyme leakage during the hypoxanthine/xanthine oxidase reaction

1988 ◽  
Vol 56 (1) ◽  
pp. 385-391 ◽  
Author(s):  
G. Mikael Olsson ◽  
Iréne Svensson ◽  
Johann M. Zdolsek ◽  
Ulf T. Brunk
Keyword(s):  
Xanthine Oxidase ◽  
Lysosomal Enzyme ◽  
Enzyme Leakage ◽  
Oxidase Reaction
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