GALACTOSIALIDOSIS--EARLY and LATE INFANTILE TYPES
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
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). This disorder is characterized by distinctive facial features (short nose, flat face, large head, bulging forehead), characteristic red spots on the retina, dark red spots on the skin (angiokeratoma), enlarged heart, enlarged liver and spleen, kidney disease, vertebral deformities, seizures, action myoclonus (abrupt spasms), and ataxia. 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.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING
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 examination shows edema, ascites, umbilical or inguinal hernia, coarse facial features, retinal cherry red spot, dysostosis multiplex, vertebral anomalies, telangiectasias, visceromegaly, cardiomegaly, poor growth/short stature, and developmental delays or intellectual disability.
ONSET AND PROGRESSION
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.
Currently there is no cure for this disorder. Treatment is supportive and symptomatic.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for evaluation:
Clinical history and physical examination that describes the diagnostic features of the impairment.
Laboratory studies with documentation of reduced or absent beta-galactosidase enzymatic activity in white blood cells or in cultured skin fibroblasts
Urine tests with evidence of elevated amounts of oligosaccharides
Suggested Listings for Evaluation:
Evaluate juvenile/adult onset galactosialidosis by the body systems involved on a case-by-case basis.
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