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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.
a metabolic disorder with onset in early childhood characterized by clinical and radiographic findings similar to those in Hurler syndrome including gum hypertrophy, thoracic dysplasia, congenital hip dislocation, and mental retardation; vacuolated lymphocytes and unusual inclusion bodies in cultured fibroblasts (I-cells) are found; lysosomal enzymes are increased in serum, spinal fluid, and urine; urinary mucopolysaccharides are normal; associated with a deficiency of N-acetylglucosaminyl-1-phosphotransferase; autosomal recessive inheritance.
A severe type of mucolipidosis characterized by psychomotor delay, intellectual disability, skeletel abnormalities, gingival hyperplasia, coarse facies, and the presence of dense inclusion bodies in fibroblasts.
See I cell disease.
mu·co·lip·i·do·sis II, pl. mucolipidoses (myū'kō-lip-i-dō'sis, -sēz)
Metabolic disorder with onset in early childhood characterized by clinical and radiographic findings similar to those in Hurler syndrome including gum hypertrophy, thoracic dysplasia, congenital hip dislocation, and mental retardation.
mu·co·lip·i·do·sis II(myū'kō-lip-i-dō'sis) [MIM*252500]
a group of inherited lysosomal storage diseases in which mucopolysaccharides and lipids accumulate in tissues. Mucolipidosis I is also called sialosis.
lysosomes contain large inclusions of undigested glycosaminoglycans and glycolipids. Called also I-cell disease.