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 ?
Orencia, supplement 250 mg inf plv csl 1 + 1xstr, unit 1x250 mg, quantity 700, orencia, supplement 125 mg inj sol isp 4x1 ml ii, unit 4x125 mg, quantity 200.
The ambassador showed a keen interest in upgradation of ML II and III and said that a high level South Korean delegation is coming to Pakistan on 3rd of next month and will visit different departments of Pakistan Railways.
The Ambassador showed interest in upgradation of ML II and III.
She was also explained about ML I, ML II and ML III.It was briefed to her that PR faced its worst time during 2012-2013, but for last 4 years things have changed for PR.
She was enlightened about ML I, ML II and ML III.It was briefed to her that PR faced its worst time during 2012-2013.But for last 4 year things have improved for PR.
Ministry of Railways always ask for competitive bidding for its projects and has appreciated the participation of CRCC in bidding of ML II feasibility study.
The differential diagnosis of ML II or III is based on the age of onset, clinical findings and degree of severity.
"In light of the recent ruling that AIG did not assign its fraud claims to ML II, we have agreed to dismiss our declaratory judgment action, without prejudice to our right to reinstitute it if necessary," AIG spokesman James Ankner said, referring to the New York case.
Specifically, Ankner said, AIG "narrowly" seeks a declaration from the Court that a 2008 contract between AIG and ML II did not transfer to ML II AIG's right to sue Bank of America and other financial institutions for the billions of dollars of damages they caused AIG and its shareholders in connection with the fraudulent sale of RMBS to AIG.
Also, the Federal Reserve earned almost USD3bn from the sale of the Maiden Lane II (ML II) portfolio based on current market values AIG said and added that the same amount could be earned when the ML III portfolio is fully liquidated.
This transaction substantially reduces the ML II portfolio and loan at a desirable price.'
Conclusion: Treatment of pressed mistletoe juice with N-acetyl-galactosamine prior to lectin determination avoids or at least strongly reduces the interference of ML II and III in standard ML I assays (ELLA) and thus provides a simple method to evaluate the content of ML 1 more exactly.