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.
Farlex Partner Medical Dictionary © Farlex 2012
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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.