Mucolipidosis
Oxford Dictionary of Biochemistry:
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mucolipidosis
(pl. mucolipidoses)
any of a group of inherited autosomal recessive diseases of humans characterized by deficiency of a variety of lysosomal hydrolases in connective tissue cells of patients, and in fibroblasts cultured from them. Mucolipidosis I, commonly known as sialidosis, is due to a deficiency of neuraminidase that leads to accumulation of sialyl oligosaccharides, and excretion of these in the urine. In mucolipidosis II, the cytoplasm of cultured cells from affected patients contains numerous highly refractile inclusions, visible by phase-contrast microscopy. These are very large lysosomes containing heterogeneous material, mucopolysaccharides, glycolipids, and whorls of membranes, giving this the name I-cell (inclusion cell) disease. Mucolipidosis III is due to a deficiency of N-acetylglucosamine 1-phosphotransferase.
any of a group of inherited autosomal recessive diseases of humans characterized by deficiency of a variety of lysosomal hydrolases in connective tissue cells of patients, and in fibroblasts cultured from them. Mucolipidosis I, commonly known as sialidosis, is due to a deficiency of neuraminidase that leads to accumulation of sialyl oligosaccharides, and excretion of these in the urine. In mucolipidosis II, the cytoplasm of cultured cells from affected patients contains numerous highly refractile inclusions, visible by phase-contrast microscopy. These are very large lysosomes containing heterogeneous material, mucopolysaccharides, glycolipids, and whorls of membranes, giving this the name I-cell (inclusion cell) disease. Mucolipidosis III is due to a deficiency of N-acetylglucosamine 1-phosphotransferase.
| mucolipid, mucoid, muco+ | |
| mucolytic, muconate, muconolactone Δ-isomerase |
Saunders Veterinary Dictionary:
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mucolipidosis
A group of inherited lysosomal storage diseases in which mucopolysaccharides and lipids accumulate in tissues. Mucolipidosis I is also called sialosis.
- m. II — lysosomes contain large inclusions of undigested glycosaminoglycans and glycolipids. Called also I-cell disease.
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Mucolipidosis
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This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (December 2007) |
| Mucolipidosis | |
|---|---|
| Classification and external resources | |
| ICD-10 | E77.0-E77.1 |
| ICD-9 | 272.7 |
| MeSH | D009081 |
Mucolipidosis (ML) is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells.
When originally named, the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses.[1] A biochemical understanding of these conditions has changed how they are classified. Although four conditions (I, II, III, and IV) have been labeled as mucolipidoses, type I (sialidosis) is now classified as a glycoproteinosis,[1] and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis.[2]
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Contents
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ML II and III
- For details, see I-cell disease (type II) and Pseudo-Hurler polydystrophy (type III)
The other two types are closely related.
Mucolipidosis types II and III (ML II and ML III) result from a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase, which phosphorylates target carbohydrate residues on N-linked glycoproteins. Without this phosphorylation, the glycoproteins are not destined for lysosomes, and they escape outside the cell.
Genetics
The mucolipidoses are inherited in an autosomal recessive manner, that is, they occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry a defective gene, each of their children faces a one in four chance of developing one of the MLs. At the same time, each child also faces a one in two chance of inheriting only one copy of the defective gene. People who have only one defective gene are known as carriers. These individuals do not develop the disease but they can pass the defective gene on to their own children. Because the defective genes involved in certain forms of ML are known, tests can identify people who are carriers in some instances.
Diagnosis
The diagnosis of ML is based on clinical symptoms, a complete medical history, and certain laboratory tests.
See also
References
- ^ a b Julia A. McMillan; Ralph D. Feigin; Catherine DeAngelis; M. Douglas Jones (1 April 2006). Oski's pediatrics: principles & practice. Lippincott Williams & Wilkins. pp. 1–. ISBN 978-0-7817-3894-1. http://books.google.com/books?id=VbjFQiz8aR0C&pg=RA1-PA2211. Retrieved 3 November 2010.
- ^ "ICD-10:". http://apps.who.int/classifications/apps/icd/icd10online/?ge70.htm+e751. Retrieved 2010-11-03.
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Oxford Dictionary of Biochemistry
Oxford University Press. Oxford Dictionary of Biochemistry and Molecular Biology © 1997, 2000, 2006 All rights reserved.
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Saunders Veterinary Dictionary
Saunders Comprehensive Veterinary Dictionary 3rd Edition. Copyright © 2007 by D.C. Blood, V.P. Studdert and C.C. Gay, Elsevier. All rights reserved.
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