Infantile sialic acid storage disorder

Infantile sialic acid storage disorder (ISSD) is an autosomal recessive neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. The clinical picture is characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly. Death usually occurs in early childhood.

Systematic

Glycolipidosis
	Inclusion body myopathy 2
	Infantile sialic acid storage disorder
		SLC17A5
	Nonaka myopathy
	Salla disease
	Sialuria