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sulfatidosis (medicine)


sulfatidosis


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

See: metachromatic leukodystrophy.