ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis.

Abstract excerpt

GM3 synthase deficiency is due to biallelic pathogenic variants in ST3GAL5, which encodes a sialyltransferase that synthesizes ganglioside GM3. Key features of this rare autosomal recessive condition include profound intellectual disability, failure to thrive and infantile onset epilepsy. We expand the phenotypic spectrum with 3 siblings who were found by whole exome sequencing to have a homozygous pathogenic...

Topics

• Adolescent
• Amoxapine
• Child
• Chorea
• Cognition Disorders
• Deafness
• Diffusion Tensor Imaging
• Epilepsy
• Family Health
• Female
• Humans