mucolipidosis III

mucolipidosis

 [mu″ko-lip″ĭ-do´sis] (pl. mucolipido´ses) any of a group of genetic disorders in which both glycosaminoglycans" >glycosaminoglycans (GAGs) and lipids" >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.

mu·co·lip·i·do·sis III

[MIM*252600, MIM*252605] mucolipidosis with mild Hurlerlike symptoms, restricted joint mobility, short stature, mild mental retardation, and dysplastic skeletal changes, especially of the hip; aortic and mitral valve disease is often present; associated with a deficiency of N-acetyl-α-glucosaminidase or other enzyme deficiencies such as lysosomal enzyme N-acetylglucosaminyl-1-phosphotransferase in mutant fibroblasts; lacks the ability to recognize lysosomal enzymes and specific substrates for phosphorylation; autosomal recessive inheritance. Synonym(s): pseudo-Hurler polydystrophy, pseudopolydystrophy

mucolipidosis III

n. A type of mucolipidosis characterized by psychomotor delay, short stature, skeletal abnormalities, and corneal clouding.

mu·co·lip·i·do·sis III

, pl. mucolipidoses (myū'kō-lip-i-dō'sis, -sēz) Mucolipidosis with mild Hurlerlike symptoms, restricted joint mobility, short stature, mild mental retardation, and dysplastic skeletal changes, especially of the hip; aortic and mitral valve disease is often present.

mu·co·lip·i·do·sis III

(myū'kō-lip-i-dō'sis) [MIM*252600, 252605, MIM*252600, MIM*252605] Mucolipidosis with mild Hurler-like symptoms, restricted joint mobility and short stature.