Mutation in the AGK gene in two siblings with unusual Sengers syndrome.

Abstract excerpt

Sengers syndrome is a rare autosomal recessive metabolic disorder caused by lack of acylglycerol kinase due to mutations in the AGK gene. It is characterized by congenital cataract, hypertrophic cardiomyopathy, myopathy and lactic acidosis. Two clinical forms have been described: a severe neonatal form, and a more benign form displaying exercise intolerance. We describe two siblings with congenital cataract,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cardiomyopathies
• Share to Cataract
• Share to Child