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 ?
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.
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.
This group will study development in ML III and advantages of trade through rail network between two countries.
Lateral cervical spine and posteroanterior chest radiographs of the patient diagnosed with ML III showed abnormal vertebral bodies with anterior vertebral beaking on the lateral cervical radiogram and chest X-ray demonstrated short and thick clavicles (Figure 2).
The upgradation of Spezand and Taftan (ML III) section was also discussed.
The up gradation of Spezand and Taftan (ML III) section was also discussed.
The mistletoe lectin content (ML I, ML II, and ML III) was determined by means of an ELISA with the aid of a combination of monoclonal antibodies specifically directed against the mistletoe lectins of mistletoes growing on deciduous trees [21].
But Dudley says the sale will result in a net gain for the benefit of the public of approximately $6.6 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.
This report discusses (1) key decisions to provide aid to AIG; (2) decisions involving the Maiden Lane III (ML III) special purpose vehicle (SPV), which was a central part of providing assistance to the company; (3) the extent to which actions were consistent with relevant law or policy; and (4) lessons learned from the AIG assistance.
Control pre-incubation experiments with lactose indicated the presence of 98 ng/mL [+ or -] 58(n =18) ML III in the pressed mistletoe juices.