Program Operations Manual System (POMS)
TN 32 (08-20)
COMPASSIONATE ALLOWANCES INFORMATION
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I CELL DISEASE
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ALTERNATE NAMES
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Mucolipidosis Type II; MLType II; Inclusion Cell disease; Mucolipidosis II Alpha/Beta;
ML II; Mucolipidosis 2; ML 2; GNPTA; Leroy Disease; N-acetylglucosamine 1 phosphotransferase
deficiency; ML disorder type 2; I Cell Syndrome; Inclusion Cell Syndrome; Inclusion
Cell Disease
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DESCRIPTION
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I Cell Disease is a rare genetic disorder in which the body lacks a critical metabolic enzyme to
break down long chains of sugar molecules.
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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 tests for mutations in the IDUA gene;
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Testing for the GNPTAB gene;
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Testing for the GNPTA gene that leads to a deficiency in the enzyme UDP-N- acetylglucosamine
1 phosphotransferase; and
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Elevated serum levels of lysosomal enzymes.
Physical findings:
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Psychomotor deterioration;
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Characteristic coarse facial features with bulging eyes, low nasal bridge, and overgrown
gums (gingival hyperplasia);
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Organomegaly (enlarged organs);
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Thickened skin with distinct facial features;
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Generalized hypotonia (low muscle tone);
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Contractures in all large joints;
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Thoracic chest wall deformity;
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Kyphosis (excessive outward curve of spine);
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Thickening and insufficiency of the mitral and aortic valves; and
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Progressive mucosal thickening narrows the airways and stiffening of the thoracic
cage resulting in respiratory insufficiency.
ICD-9:
272.7
ICD-10: E77.0
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PROGRESSION
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Developmental delay and growth failure are the first signs of I Cell Disease, and
present in the first year of life. As the child develops, difficulties with motor
coordination are evident and manifests with rapid and progressive deterioration. Heart
disease and complications of pneumonia are the major causes of death.
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TREATMENT
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There is no current cure for I Cell Disease. Treatment is supportive. Bone marrow
transplantation may be used to delay or correct neurological deterioration. Intravenous
treatment with pamidronate may prevent break down of bone tissue, decrease bone pain,
and increase mobility.
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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 diagnostic features of the impairment;
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Laboratory tests showing results of genetic testing for mutations in the IDUA gene;
and
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Evidence of neurodevelopmental delay.
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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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