DESCRIPTION
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MPS
III is a lysomal storage disease, which is caused by the absence or malfunctioning of
certain enzymes needed to break down molecules called glycosaminoglycans (mucopolysaccharidoes)
– long chains of sugar carbohydrates in each of our cells that help build bone, cartilage,
tendons, corneas, skin, connective tissue and joints. Individuals with MPS III either
do not produce enough of one of the enzymes or they produce enzymes that do not work
properly. Over time, these sugar chains collect in the cells, blood and connective
tissues resulting in permanent, progressive cellular damage that affects the individual’s
appearance, physical abilities, organ and system functioning, and, in most cases mental
development.
Sanfilippo A, the most severe of the MPS III disorders, is caused by the missing or
altered enzyme heparan N-sulfatase. Individuals with this disease have the shortest
survival rate among those with the MPS III disorders.
The disorder is seen in about 1 in 70,000 births.
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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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Skin fibroblast culture; and
Prenatal diagnosis using amniocentesis and chorionic villus sampling (CVS) can verify
if a fetus either carries a copy of the defective gene or is affected with the disorder.
Physical findings: A decline in learning ability typically occurs between ages 2 and 6. The child may
have normal growth during the first few years, but final height is below average.
Delayed development is followed by deteriorating mental status.
Other physical findings for individuals with MPS III may include:
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Intellectual disability or developmental delay;
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Coarse or rough facial features;
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Dysplasia (abnormal growth of tissue or organs);
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Enlarged liver or spleen (hepatosplenomegaly);
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Excessive body hair growth;
ICD-9: 277.5
ICD-10: C76.22
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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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