Galactosialidosis

Galactosialidosis
Classification and external resources
Specialty	endocrinology
ICD-10	E77.1
OMIM	256540
DiseasesDB	33441
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Galactosialidosis is a lysosomal storage disease.

This condition is rare and most cases have been in the juvenile/adult group of patients. An infantile form has been described.

It is associated with cathepsin A.

This disease is due to mutations in the CTSA gene which encodes the protective protein/cathepsin A (PPCA). This in turn leads to a secondary deficiency of beta-galactosidase (GLB1) and neuraminidase 1 (NEU1).

There are three distinct CTSA isoforms.

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