Program Operations Manual System (POMS)
TN 32 (08-20)
DI 23022.780 Infantile Free Sialic Acid Storage Disease
COMPASSIONATE ALLOWANCES INFORMATION
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INFANTILE FREE SIALIC ACID STORAGE
DISEASE
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ALTERNATE NAMES
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ISSD; Sialuria Infantile Form; Infantile Sialic Acid Storage Disorder; Free Sialic
Acid Storage Disease; N-acetylneuraminic acid storage disease; NANA Storage Disease;
Sialuria Finnish Type
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DESCRIPTION
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Infantile Free Sialic Storage Disease (ISSD) is the most severe form of sialic acid storage disease, a rare inherited metabolic
disorder. Affected children lack the ability to transport sialic acid out of the cell,
leading to abnormal accumulations that primarily affect the nervous system. Affected
infants have severe developmental delay, hypotonia, and failure to gain weight and
grow at the expected rate (failure to thrive). They may have unusual facial features
that are often described as "coarse", bone malformations, hepatosplenomegaly, and
cardiomegaly. The abdomen may be swollen due to enlarged internal organs and ascites.
Affected infants may also have hydrops fetalis at birth. Seizures are common.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing:
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Genetic testing for mutations in the SLC17A5 gene;
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Lab testing shows elevated sialic acid levels in cultured tissue cells; and
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Increased free sialic acid in the urine
Physical findings: Signs and symptoms of ISSD include:
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Increasing coarse facial features;
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Neurologic deterioration;
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Dysostosis (abnormal bone formation);
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Ataxia and hypotonia at approximately age one year;
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Developmental delay and growth delay in early childhood; and
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Severe cognitive and motor impairment.
ICD-9: 271.9
ICD-10: E74.9
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PROGRESSION
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Onset of this disorder is at or even before birth. Children usually live only into
early childhood.
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TREATMENT
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There is no current cure for this disorder. Treatment is supportive and may include
physical, occupational and speech therapies; nutrition therapy; and anti-seizure treatment.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for
Evaluation:
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Clinical history and examination that describes the diagnostic features of the impairment;
and
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Laboratory testing for identified enzyme changes and elevated free sialic acid in
cultured cells and the urine
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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110.08 B
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Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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