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multiple sulfatase deficiency

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multiple sulfatase deficiency,
an autosomal-recessive lysosomal storage disease in which a deficiency of at least nine lysosomal and microsomal sulfatases leads to accumulation of sulfate-containing glycolipids, mucopolysaccharides, and steroids. The disorder generally presents as sulfatide lipidosis and later also shows features of mucopolysaccharidoses, variably combining phenotypic features of the specific enzymatic defects. Neurologic deterioration is rapid. Also called mucosulfatidosis.


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S Responding to unkind remarks My two daughters, ages 8 and 5, have multiple sulfatase deficiency (an extremely rare genetic disorder involving severe neurologic and skeletal abnormalities).
org 1,2,4,5,8; Spanish materials MULTIPLE SULFATASE DEFICIENCY See: Hearing Impairments; Ichthyosis; Leukodystrophy; Tay-Sachs Disease MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY See: Glycogen Storage Diseases; Muscular Dystrophy MUSCLE PHOSPHORYLASE DEFICIENCY See: Glycogen Storage Diseases; Muscular Dystrophy MUSCULAR ATROPHY, PERONEAL See: Charcot-Marie-Tooth Disease MUSCULAR DYSTROPHY See also: Facio-Scapulo-Humeral Muscular Dystrophy; Ventilator Use Duchenne Parent Project 125 Marymount Ct.
 
 
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