mucolipidosis III

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.

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.

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.
References in periodicals archive ?
The event was attended by more than 200 people, and raised more than $1,300 in support of the fight against Mucolipidosis III.
8220;It was an honor to be asked to host this incredible event,” Jackie James, co-owner of the London Tea Room and mother of a child with Mucolipidosis III, said.
Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.
However, this assay, like others for increased lysosomal enzymes in serum, cannot distinguish between mucolipidosis II and mucolipidosis III, which usually must be differentiated on the basis of events seen in clinical progression.
Louis' London Tea Room with food, music, proclamations, coverage of HM The Queen's processional from London, giveaways, a raffle to raise funds to fight Mucolipidosis III, demonstration sword fighting and more.