Work

The heart in Anderson-Fabry disease and other lysosomal storage disorders

Year: 2007

Type: article

Abstract: ysosomal storage disorders (LSD) comprise a group of more than 40 diseases caused by a deficiency of lysosomal enzymes, membrane transporters or other proteins involved in lysosomal biology.The predominant inheritance pattern is autosomal recessive except for Anderson-Fabry disease, glycogen storage disease (GSD) type IIb (Danon disease) and mucopolysaccharidosis (MPS) type II (Hunter disease).While the metabolic defects affect all cells, clinical organ involvement usually occurs only in the presence of substrate excess or metabolic pathway activation.Cardiac disease is particularly important in lysosomal glycogen storage diseases (Pompe and Danon disease), mucopolysaccharidoses and in glycosphingolipidoses (Anderson-Fabry disease).Various disease manifestations may be observed including hypertrophic and dilated cardiomyopathy, coronary artery disease and valvular disease (table 1).

Source: Heart

DOI: 10.1136/hrt.2005.063818

Authors: Aleš Linhart, Perry M Elliott

Institutions: Charles University, University College Hospital at Westmoreland Street, University College London

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2014730852