The Challenge of Diagnosis and Indication for Treatment in Fabry Disease
J. inborn errors metab. screen
;
5: e160049, 2017.
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1090942
ABSTRACT
Abstract Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic activity determination fails to detect the disease in about two-thirds of the patients, and only the identification of a pathogenic mutation in the GLA gene allows for a definite diagnosis. The hurdle to be overcome in this field is to determine whether a mutation that has never been described determines a ''classic'' or ''nonclassic'' phenotype, because this will have an impact on the decision-making for treatment initiation. Besides the enzymatic determination and GLA gene mutation determination, researchers are still searching for a good biomarker, and it seems that plasma lyso-Gb3 is a useful tool that correlates to the degree of substrate storage in organs. The ideal time for treatment initiation for children and nonclassic phenotype remains unclear.
Full text:
Available
Index:
LILACS (Americas)
Type of study:
Diagnostic study
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2017
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade Federal de São Paulo/BR
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