Goldberg's syndrome

Related Overviews


'Goldberg's syndrome' can also refer to...


More Like This

Show all results sharing this subject:

  • Medicine and Health


Quick Reference

A condition caused by deficiency in neuraminidase and β-galactosidase which has features of a mucopolysaccharidosis and a sphingolipidosis and could therefore be considered a mucolipidosis. The defect appears to be in lysosomal cathepsin A, which is required for normal processing of the two deficient enzymes, rather than a defect in the neuraminidase and galactosidase genes. The protective enzyme functions as cathepsin A at acidic pH and as a deamidase/esterase at neutral pH and the severity of the syndrome depends upon the amount of residual activity.

Subjects: Medicine and Health.

Reference entries