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

/mu·co·lip·i·do·sis/ (mu″ko-lip″ĭ-do´sis) pl. mucolipido´ses   any of a group of lysosomal storage diseases in which both glycosaminoglycans (mucopolysaccharides) and lipids accumulate in tissues but without excess of the former in the urine.

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

[myo̅o̅′kōlip′idō′sis]
any of a group of metabolic disorders characterized by an accumulation of mucopolysaccharides and lipids in the tissues, but without an excess of mucopolysaccharides in the urine. Mucolipidosis includes I cell disease (mucolipidosis II) and pseudo-Hurler polydystrophy (mucolipidosis III).

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]

mucolipidosis

a group of inherited lysosomal storage diseases in which mucopolysaccharides and lipids accumulate in tissues. Mucolipidosis I is also called sialosis.

mucolipidosis II
lysosomes contain large inclusions of undigested glycosaminoglycans and glycolipids. Called also I-cell disease.
References in periodicals archive ?
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.
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease--lysosomal storage disorders caused by defects of non-lysosomal proteins.
Combined tarsal and carpal tunnel syndrome in mucolipidosis type III: a case study and review.
Total acid [alpha]-glucosidase (a) Disorder n [micro]g/L Control 195 17 (2-61) Acid lipase (c) 2 76 (65-87) Fabry (c) 27 10 (5-46) Galactosialidosis 1 14 Gaucher (c) 87 40 (0-737) GM I (d) 14 16 (7-29) Mucolipidosis 14 149 (7-273) II/III (c) Krabbe 14 17 (5-31) Mannosidosis 9 10 (6-25) MLD 34 17 (1-55) MSD (c) 4 27 (22-102) MPS I 24 19 (3-27) MPS II (c) 23 26 (13-46) MPS IIIA (c) 24 23 (2-40) MPS IIIB 19 20 (10-38) MPS IIIC 3 18 (13-22) MPS IIID 3 25 (6-29) MPS IVA (c) 16 14 (6-21) MPS VI 10 12 (5-65) N-P (A/B) (c) 10 39 (39-84) N-P (C) (c) 13 24 (15-84) Pompe (e) 22 0.
Age, (a) Disorder n years Control 111 7 (0-66) Cystinosis (e) 9 6 (1-24) Fabry disease (e) 27 27 (4-47) Galactosialidosis 1 16 Gaucher disease 52 19 (0-73) GM I-gangliosidosis 12 3 (0-15) Mucolipidosis II/III 16 7 (0-25) Krabbe disease (e) 11 0.
Visualization of storage vacuoles by electron microscopy has also been proposed as a method for prenatal diagnosis of mucolipidosis [34].
Mucolipidosis IV: prenatal diagnosis by electron microscopy.
See: Mucolipidosis Type IV, Mucopolysaccharidosis, Tay-Sachs Disease