Fabry disease: Review and experience during newborn screening

Fabry disease (FD) is an X-linked lysosomal storage disease and is the result of mutation in the α-Galactosidase A gene; such mutations cause a deficiency in α-Galactosidase A enzyme and an accumulation of glycosphingolipid in tissue. Affected males with classic FD have little or no enzyme activity and have an early onset of symptoms and signs, including acroparesthesias, hypohidrosis, angiok eratomas, gastrointestinal dysfunction and/or a characteristic corneal dystrophy during childhood/adolescence.
Source: Trends in Cardiovascular Medicine - Category: Cardiology Authors: Source Type: research