Fabry disease articles from across Nature Portfolio

Lysosomal storage diseases (LSDs) are a diverse group of disorders that can manifest at any stage of life. This Primer by Platt and colleagues provides an overview of the LSDs, including how lysosomal dysfunction gives rise to disease and how these disorders are diagnosed and treated. An overview of future therapeutic targets for LSDs is also provided.

For more than a decade, enzyme replacement therapy represented the only treatment option for patients with Fabry disease. New findings suggest that a pharmacological chaperone can induce renal substrate clearance, decrease left ventricular mass and improve gastrointestinal symptoms in patients with specific mutations in GLA.

Lysosomal acid lipase deficiency can lead to liver failure and early death. A recently published placebo-controlled trial shows that enzyme-replacement therapy improves plasma levels of lipids and aminotransferases, and reduces liver fat content. However, the effect on clinical end points and an appropriate indication for treatment remain to be established.