multiple sulfatase deficiency

mul·ti·ple sul·fa·tase de·fi·cien·cy

[MIM*272200]

an inherited disorder (autosomal recessive) in which there is a failure to hydrolyze sulfatides and sulfated mucopolysaccharides; this failure leads to their accumulation in neural and extraneural tissues, causing disorders such as demyelination and facial and skeletal dysmorphism.

multiple sulfatase deficiency

an autosomal-recessive lysosomal storage disease in which a deficiency of at least nine lysosomal and microsomal sulfatases leads to accumulation of sulfate-containing glycolipids, mucopolysaccharides, and steroids. The disorder generally presents as sulfatide lipidosis and later also shows features of mucopolysaccharidoses, variably combining phenotypic features of the specific enzymatic defects. Neurological deterioration is rapid. Also called mucosulfatidosis.

multiple sulfatase deficiency

A clinically and biochemically heterogeneous autosomal recessive disorder (OMIM:272200) caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation.

Clinical findings
Combined features of individual sulfatase deficiencies, such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.

Molecular pathology
Arylsulfatase A activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1, which result in defective post-translational modification of ARSA at residue Cys-69 that is not converted to 3-oxoalanin.