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Definition

A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.

Acronym

MSD

Synonyms

Mucosulfatidosis
Sulfatidosis juvenile Austin type

Keywords

Metachromatic leukodystrophy
Ichthyosis

 
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