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Pronunciation: sul'fa-ti-do'sis

Definition: A combination of metachromatic leukodystrophy and mucopolysaccharidosis caused by deficiency of sulfatase enzymes such as arylsulfatases A, B, and C, and steroid sulfatases; characterized by coarse facial features, ichthyosis, hepatosplenomegaly, and skeletal abnormalities, with increased urinary excretion of dermatan and heparan sulfates; autosomal recessive inheritance.

See Also: metachromatic leukodystrophy

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.