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