Fabry Disease | ScienceGate

: Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, predominantly globotriaosylsphingosine (Gb3) in lysosomes, as well as other cellular compartments of several tissues, causing multi-organ manifestations (acroparesthesias, hypohidrosis, angiokeratomas, signs and symptoms of cardiac, renal, cerebrovascular involvement). Pathogenic mutations lead to a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA). In the presence of high clinical suspicion, a careful physical examination and specific laboratory tests are required. Finally, the diagnosis of Fabry’s disease is confirmed by the demonstration of the absence of or reduced alpha-galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females. Measurement of the biomarkers Gb3 and Lyso Gb3 in biological specimens may facilitate diagnosis. The current treatment of Anderson-Fabry disease is represented by enzyme replacement therapy (ERT) and oral pharmacological chaperone. Future treatments are based on new strategic approaches such as stem cell-based therapy, pharmacological approaches chaperones, mRNA therapy, and viral gene therapy. : This review outlines the current therapeutic approaches and emerging treatment strategies for Anderson-Fabry disease.

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Globotriaosylsphingosine (Lyso-Gb) and analogues in plasma and urine of Fabry disease patients and relation to long-term treatment in a nationwide female Danish cohort: A retrospective study of a prospective cohort

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2019.11.115 ◽

2020 ◽

Vol 129 (2) ◽

pp. S52

Author(s):

Grigorios Effraimidis ◽

Ulla Feldt-Rasmussen ◽

Åse Krogh Rasmussen ◽

Pamela Lavoie ◽

Christiane Auray-Blais

Keyword(s):

Retrospective Study ◽

Fabry Disease ◽

Prospective Cohort ◽

Term Treatment ◽

Long Term Treatment ◽

Danish Cohort

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Dual therapy with migalastat and agalsidase-beta in a patient with Fabry disease with progressing hypertrophic cardiomyopathy

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2020.12.250 ◽

2021 ◽

Vol 132 (2) ◽

pp. S103

Author(s):

Chanan Stauffer ◽

Manisha Balwani ◽

Robert J. Desnick ◽

Luca Fierro ◽

Jaya Ganesh

Keyword(s):

Hypertrophic Cardiomyopathy ◽

Fabry Disease ◽

Dual Therapy ◽

Agalsidase Beta

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