Goldberg's syndrome

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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.

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