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mucolipidosis (mu″ko-lip″ĭ-do´sis) pl. mucolipido´ses any of a group of genetic disorders in which both glycosaminoglycans (GAGs) and lipids accumulate in tissues, but without excess of GAG in the urine. mucolipidosis I
sialidosis (type I). mucolipidosis II
a rapidly progressing disease of young children, histologically characterized by abnormal fibroblasts containing a large number
of dark inclusions which fill the central part of the cytoplasm except for the juxtanuclear zone (I-cells), and clinically
by severe growth impairment, minimal hepatic enlargement, extreme mental and motor retardation, and clear corneas; inherited
as an autosomal recessive trait, it is due to deficiency of multiple lysosomal hydrolases. Called also I-cell disease. mucolipidosis III
a disorder similar to but milder than mucolipidosis II, and thought to be due to the same enzyme deficiency but to a lesser
extent. Called also pseudo-Hurler polydystrophy. mucolipidosis IV
a form marked by early corneal clouding, psychomotor retardation, and the presence of lysosomal storage bodies; thought to
be transmitted as an autosomal recessive trait.
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