Program Operations Manual System (POMS)
TN 35 (08-20)
DI 23022.730 Galactosialidosis -- Early and Late Infantile Types
COMPASSIONATE ALLOWANCES INFORMATION
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GALACTOSIALIDOSIS -- EARLY and LATE INFANTILE
TYPES
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ALTERNATE NAMES
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Protective Protein/Cathepsin A Deficiency ; PPCA deficiency; Cathepsin A Deficiency
of GSL; Deficiency of Cathepsin A; Lysosomal Protein Deficiency; Neuraminidase with
Beta galactosidase deficiency; Goldberg Syndrome
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DESCRIPTION
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Galactosialidosis is a rare inherited disorder caused by a mutation of the CTSA gene. There are three
types of galactosialidosis: early infantile, late infantile and juvenile/adult form.
The most severe form of galactosialidosis, the early infantile
type, results in early onset of edema (may be prenatal); ascites, enlarged internal organs
in the abdominal cavity (visceromegaly), and skeletal dysplasia (disproportionately
short stature).
The late infantile type starts in the first year of life and shares many of the clinical features of early
infantile type, but symptoms and neurological deterioration does not progress as rapidly.
Intellectual disability is common.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: A direct assay system for protective protein/cathepsin A is available for prenatal
diagnosis of galactosialidosis. After birth, the diagnosis is confirmed by reduced
or absent beta-galactosidase enzymatic activity in white blood cells or in cultured
skin fibroblasts. Urine tests may show excessive amounts of bound sialic acid and
oligosaccharides (partially broken down sugars).
Physical findings: Physical findings for this conditions include:
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Distinctive facial features (short nose, flat face, large head, bulging forehead);
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Umbilical or inguinal hernia;
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Enlarged liver and spleen (hepatosplenomegaly);
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Enlarged heart (cardiomegaly);
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Action myoclonus (abrupt spasms);
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Poor growth/short stature; and
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Developmental delays or intellectual disability.
ICD-9: 271.8
ICD-10:
E88.9
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PROGRESSION
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Signs of early infantile type galactosialidosis most often appear between birth and
3 months of age, with death usually occurring by one year of age due to renal or cardiac
failure. Signs of late infantile type galactosialidosis appear around age 1.
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TREATMENT
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Currently there is no cure for this disorder. Treatment is supportive and symptomatic.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and physical examination that describes the diagnostic features of
the impairment;
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Laboratory studies with documentation of reduced or absent beta-galactosidase enzymatic
activity in white blood cells or in cultured skin fibroblasts; and
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Urine tests with evidence of elevated amounts of oligosaccharides.
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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 A
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Evaluate juvenile/adult onset galactosialidosis by the body systems involved on a
case-by-case basis.
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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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