[Onset of Glycogen Storage Disease Type Ⅻ in Two Brothers in the Neonatal Period].

Abstract excerpt

Glycogen storage diseases (GSDs) are a group of autosomal recessive disorders of glucose metabolism.GSDs are caused by congenital deficiency of enzymes in glycogen synthesis or decomposition,which results in glycogen accumulation in organs.According to the types of enzyme deficiency,GSDs can be classified into more than ten types,among which GSD Ⅻ is a super-rare type of GSD.Two brothers with a 5-year age...

Topics

Join the communities discussing this publication.

• Child, Preschool
• Glycogen Storage Disease
• Infant, Newborn
• Mutation
• Siblings