sulfatidosis

sul·fa·ti·do·sis

(sŭl'fă-ti-dō'sis), [MIM*272200] 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.

sul·fa·ti·do·sis

(sŭl'fă-ti-dō'sis) [MIM*272200] Disorder characterized by coarse facial features, ichthyosis, hepatosplenomegaly, and skeletal abnormalities.

单词	sulfatidosis
释义	sulfatidosis sul·fa·ti·do·sis (sŭl'fă-ti-dō'sis), [MIM272200] 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. sul·fa·ti·do·sis (sŭl'fă-ti-dō'sis) [MIM272200] Disorder characterized by coarse facial features, ichthyosis, hepatosplenomegaly, and skeletal abnormalities.
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