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 ?
The Request for Proposal (RFP) for up gradation of existing feasibility study of ML III is in progress and will be accomplished in 2018 .
The Request for Proposal (RFP) for upgradation of existing feasibility study of ML III is in progress and will be accomplished in 2018 .
6 billion, including $737 million in accrued interest on the New York Fed's loan to ML III.
As Starr would have it, federal law would displace Delaware law from certain aspects of FRBNY's rescue of AIG, but not other aspects like ML III and the transactions in AIG equity," the brief said.
Insurance organisation, American International Group Inc (NYSE:AIG) on Thursday revealed that the outstanding loan by the Federal Reserve Bank of New York (FRBNY) to the Maiden Lane III LLC (ML III) has been fully repaid after FRBNY auctioned some assets of ML III.
To address these issues, GAO focused on the initial assistance to AIG and subsequent creation of ML III.
Control pre-incubation experiments with lactose indicated the presence of 98 ng/mL [+ or -] 58(n =18) ML III in the pressed mistletoe juices.
1,2) Spranger and Wiedmann first described in 1970 that both mucopoly-saccharides and lipids accumulate within lysosomes of patients with ML III.
The repayment comes from proceeds from completed auctions by the Federal Reserve Bank of New York (the FRBNY) of certain ML III assets.
The winning bids, which were materially higher than the original prices ML III paid, demonstrate continued interest in these assets and represent good value for the public," said New York Fed President William Dudley in a statement.
The Fed would only say that the transaction "substantially reduces" the ML III portfolio and loan and were sold "at a desirable price.
Further, the total outstanding assistance was down to about USD9bn of the Federal Reserve Band of New York's (FRBNY) interest in ML III and about USD36bn worth of AIG common stock owned by the Treasury via repayments, withdrawals, exchanges, sales and other actions, the company also stated.