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Sialic acid storage disease, severe infantile type

Synonyms
Free sialic acid storage disease, infantile form; Infantile Free Sialic Acid Storage Disease; Infantile Sialic Acid Storage Disease; Infantile sialic acid storage disorder; N-Acetylneuraminic acid storage disease; NANA STORAGE DISEASE; Sialuria, infantile form
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Free Sialic Acid Storage Disorders
Free sialic acid storage disorders (FSASDs) are a spectrum of neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. Historically, FSASD was divided into separate allelic disorders: Salla disease, intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD). The mildest type was Salla disease, characterized by normal appearance and absence of neurologic findings at birth, followed by slowly progressive neurologic deterioration resulting in mild-to-moderate psychomotor delays, spasticity, athetosis, and epileptic seizures. Salla disease was named for a municipality in Finnish Lapland where a specific founder variant is relatively prevalent. However, the term Salla has been used in the literature to refer to less severe FSASD. More severe FSASD is historically referred to as ISSD, and is characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; death usually occurs in early childhood.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
David Adams
Melissa Wasserstein
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Available tests

38 tests are in the database for this condition.

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Clinical tests (38 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AST, ISSD, NSD, SD, SIALIN, SIASD, SLD, VEAT, SLC17A5
    Summary: solute carrier family 17 member 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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