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
Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.
© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.
Search Stedman's Medical Dictionary
Examples: glitazone, GI cocktail, etc.