Metabolic defect: increased lysosomal storage of free sialic acid Other transport/trafficking diseases: cystinosis | mucolipidosis IV | infantile sialic acid storage

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An inborn disorder of N-acetylneuraminic (sialic) acid storage characterized mainly by massive excretion of free sialic acid.

Strabismus		Hepatosplenomegaly				Hypotonia

An adult form of sialuria, also called sialic acid storage disease; allelic with infantile sialic acid storage disorder,^[1] but milder in clinical manifestations.^[2] Patients are normal in neonatal period, with disease onset at 6-9 months of age,^[1] characterized by muscular hypotonia and slowly progressive neurologic deterioration.^[2] Mental retardation and clumsiness may appear at 12 to 18 months of age,^[1] although some patients present later in life with spasticity, athetosis, and epileptic seizures.^[2] Some patients learn to walk and comprehend speech, although speaking may be limited.^[2] Decline in the second decade, including severe psychomotor deterioration and ataxia, enlarged storage lysosomes, and increased sialic acid in the urine.^[1] Life expectancy may be shortened, although patients have been known to survive into the 7th decade of life.^[2]

Growth retardation

Nystagmus

Exotrophia

Thick calvaria

Delayed motor development

Severely delayed mental development

Mental retardation

Ataxia

Hypotonia

Spasticity

Athetosis

Delayed and impaired speech

Seizures

Inability to walk

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1. National Center for Biotechnology Information; OMIM(TM), Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604369 Accessed July 2004.

2. University of Washington, Seattle, GeneTests. www.genetests.org/servlet/access?db=geneclinics&site=gt&id=8888891&key=oxGKeRv8TPduh&gry=&fcn=y&fw=4TXV&filename=/profiles/issd/index.html. Accessed August 2004.