CONSIDERATIONS IN THE PRENATAL ASSESSMENT OF LYSOSOMAL ENZYME DEFICIENCY IN EIGHT CASES AT RISK

1977 ◽  
Vol 55 (3) ◽  
pp. 253-262 ◽  
Author(s):  
WF Carey ◽  
PV Nelson ◽  
AC Pollard
Keyword(s):  
At Risk ◽  
Lysosomal Enzyme ◽  
Enzyme Deficiency

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.

Prenatal Screening for Inborn Errors of Metabolism

1972 ◽  
Vol 9 (1-6) ◽  
pp. 109-111
Author(s):  
R. B. Ellis
Keyword(s):  
At Risk ◽  
Enzyme Activity ◽  
Mass Screening ◽  
Inborn Errors Of Metabolism ◽  
Prenatal Screening ◽  
Enzyme Deficiency ◽  
Inborn Errors ◽  
Maternal Contamination

The problems likely to be encountered and the limitations of present methods of pre-natal diagnosis of inborn errors of metabolism by assay of the deficient enzyme activity is emphasised. Particular attention is given to the problems of testing the correct enzyme deficiency, choosing the most appropriate foetal sample, and of minimising the effects of maternal contamination. For those disorders which are recessively inherited, the feasibility of mass screening for the detection of marriages between carriers is considered as a means whereby all foetuses at risk for a given condition may be recognised.

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