An Explanation for Variations in the Clinical and Biochemical Symptoms of Lysosomal-Enzyme Deficiency Diseases such as GM1 Gangliosidosis

1979 ◽  
Vol 7 (5) ◽  
pp. 980-982
Author(s):  
PETER S. J. CHEETHAM
Keyword(s):  
Lysosomal Enzyme ◽  
Enzyme Deficiency ◽  
Gm1 Gangliosidosis ◽  
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.

scholarly journals Lysosomal Storage Disease

2009 ◽  
Vol 48 (175) ◽  
Author(s):  
Binod Khatiwada ◽  
A Pokharel
Keyword(s):  
Lysosomal Storage Disease ◽  
Lysosomal Enzyme ◽  
Enzyme Assay ◽  
Storage Disease ◽  
Lysosomal Storage ◽  
Gm1 Gangliosidosis ◽  
Poor Vision ◽  
Gradual Onset ◽  
History Of ◽  
Beta Galactosidase

We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year oldboy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in allfour limbs with hyper-refl exia. On fundus examination cherry red spots were noted at macula. Onperforming lysosomal enzyme assay, beta-galactosidase level was considerably low. This indicatesthat the child is affected by lysosomal storage disease most likely GM1 gangliosidosis. The diagnosisis important because the disease is rare and it may be missed as the symptoms are similar to otherneurological conditions and the diagnosis can help with future conception.Key Words: beta-galactosidase, GM1 gangliosidosis, lysosomal storage disease

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