mucolipidosis


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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.

mu·co·lip·i·do·sis

, pl.

mu·co·lip·i·do·ses

(myū'kō-lip-i-dō'sis, -sēz),
Any of a group of lysosomal storage diseases in which symptoms of visceral and mesenchymal mucopolysaccharide, glycoprotein, oligosaccharide, or glycolipid storage are present; clinically, they bear a superficial resemblance to the mucopolysaccharidoses; autosomal recessive inheritance.
[muco- + lipid + -osis, condition]

mucolipidosis

(myo͞o′kō-lĭp′ĭ-dō′sĭs)
n.
Any of a several progressive genetic diseases in which glycosaminoglycans and lipids accumulate in the tissues (without excretion of glycosaminoglycans in the urine), usually appearing in infancy or early childhood and resulting in symptoms of varied severity, often including musculoskeletal abnormalties and intellectual disability.

mucolipidosis

Any of 4 AR lysosomal storage diseases characterized by accumulation of glycolipids in interstitial tissues, which have clinical features similar to the mucopolysaccharidoses

mu·co·lip·i·do·sis

, pl. mucolipidoses (myū'kō-lip-i-dō'sis, -sēz)
Any of a group of lysosomal storage diseases in which symptoms of visceral and mesenchymal mucopolysaccharide, glycoprotein, oligosaccharide, or glycolipid storage are present.
[muco- + lipid + -osis, condition]

mu·co·lip·i·do·sis

, pl. mucolipidoses (myū'kō-lip-i-dō'sis, -sēz)
A lysosomal storage disease in which symptoms of visceral and mesenchymal mucopolysaccharide, glycoprotein, oligosaccharide, or glycolipid storage are present.
[muco- + lipid + -osis, condition]
References in periodicals archive ?
Oral findings in patients with mucolipidosis type III.
Lateral cervical spine and posteroanterior chest radiographs of case 1 diagnosed with mucolipidosis III.
Claw-hand deformity (impossible flexion and maximum extension) in case 3 diagnosed with mucolipidosis III.
Hand and pelvis radiographs of case 3 diagnosed with mucolipidosis III.
Similarly, a small series reported by Satoh et al (18) focused on the cardiac manifestations of mucolipidosis and promoted using echocardiography to follow patients throughout life.
Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.
I-cell disease (mucolipidosis II): a lysosomopathy.
Enzyme Disease P (a)/C Reference [alpha]-L-Iduronidase MPS I 13/7 2 (EC 3.2.1.76) Iduronate sulfatase MPS II 10/8 3 (EC 3.1.6.12) MSD 1/2 Arylsulfatase B MPS VI 10/8 4 (EC 3.1.6.1) MSD 1/2 [beta]-D-Glucuronidase MPS VII 2/1 5 (EC 3.2.1.31) [beta]-D-Galactosidase GM1 gangliosidosis 10/10 5 (EC 3.2.1.23) Galactosialidosis 1/1 MPS IV B NA [alpha]-D-Mannosidase [alpha]-Mannosidosis 2/2 5 (EC 3.2.1.24) [alpha]-L-Fucosidase Fucosidosis NA 5 (EC 3.2.1.51) [beta]-Hexosaminidase Sandhoff 3/3 5 (EC 3.2.1.30) Mucolipidosis II/III 5/4 (a) P, patients; C, carriers; NA, not available.
The acid [alpha]-glucosidase protein was increased in individuals with acid lipase deficiency, mucolipidosis II/III, Gaucher disease, and Niemann-Pick disease (type A/B).
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.
MPS and ML (mucolipidosis) disorders are progressive, enzyme-deficiency conditions, in which the cells of the body cannot produce the enzyme which breaks down sugars or fats in the cell.