Lysosomal storage disease

Lysosomal storage disease

The lysosomal storage diseases are a group of over forty human genetic disorders that result from defects in lysosomal function. [cite journal |author=Winchester B, Vellodi A, Young E |title=The molecular basis of lysosomal storage diseases and their treatment |journal=Biochem. Soc. Trans. |volume=28 |issue=2 |pages=150–4 |year=2000 |pmid=10816117] The diseases are relatively rare and together they have an incidence of approximately 1 in 7000-8000 live births.

Lysosomes are cytoplasmic organelles that contain enzymes (specifically, acid hydrolases) that break macromolecules down to peptides, amino acids, monosaccharides, nucleic acids and fatty acids. The diseases are due to individuals lacking one of these enzymes, which causes the accumulation of material in lysosomes.

Types

The lysosomal storage diseases are classified by the nature of the primary stored material involved, and can be broadly broken into the following: (ICD-10 codes are provided where available)
* (E75) lipid storage disorders (including Gaucher's and Niemann-Pick diseases)
** (E75.0-E75.1) gangliosidosis (including Tay-Sachs disease)
** (E75.2) leukodystrophies
* (E76.0) mucopolysaccharidoses (including Hunter syndrome and Hurler disease)
* (E77) glycoprotein storage disorders
* (E77.0-E77.1) mucolipidoses

Treatment

There are no cures for these diseases and treatment is mostly symptomatic, although bone marrow transplantation and enzyme replacement therapy have been tried with some success. [cite journal |author=Clarke JT, Iwanochko RM |title=Enzyme replacement therapy of Fabry disease |journal=Mol. Neurobiol. |volume=32 |issue=1 |pages=43–50 |year=2005 |pmid=16077182 |doi=10.1385/MN:32:1:043] [cite journal |author=Bruni S, Loschi L, Incerti C, Gabrielli O, Coppa GV |title=Update on treatment of lysosomal storage diseases |journal=Acta Myol |volume=26 |issue=1 |pages=87–92 |year=2007 |pmid=17915580] The experimental technique of gene therapy may offer cures in the future. [cite journal |author=Ponder KP, Haskins ME |title=Gene therapy for mucopolysaccharidosis |journal=Expert Opin Biol Ther |volume=7 |issue=9 |pages=1333–45 |year=2007 |pmid=17727324 |doi=10.1517/14712598.7.9.1333]

References


Wikimedia Foundation. 2010.

Игры ⚽ Поможем написать курсовую

Look at other dictionaries:

  • lysosomal storage disease — any inborn error of metabolism having four characteristics: (1) a defect in a specific lysosomal hydrolase; (2) intracellular accumulation of the unmetabolized substrate; (3) clinical progression affecting multiple tissues and organs; (4)… …   Medical dictionary

  • Cholesteryl ester storage disease — Template:Cholesteryl Ester Storage Disease (CESD) Classification and external resources ICD 10 E75.5 ICD 9 272.7 …   Wikipedia

  • cholesteryl ester storage disease — (CESD) a relatively mild lysosomal storage disease caused by deficiency of the lysosomal sterol esterase; hepatomegaly may be the only clinical abnormality; hyperbetalipoproteinemia is common, and there is often severe premature atherosclerosis;… …   Medical dictionary

  • Glycogen storage disease — Classification and external resources Glycogen ICD 10 E74.0 …   Wikipedia

  • lysosomal enzymopathy — lysosomal storage disease …   Medical dictionary

  • Glycogen storage disease type II — Infobox Disease Name = Glycogen storage disease type II Caption = DiseasesDB = 5296 ICD10 = ICD10|E|74|0|e|70 ICD9 = ICD9|271.0 ICDO = OMIM = 232300 MedlinePlus = eMedicineSubj = med eMedicineTopic = 908 eMedicine mult = eMedicine2|ped|1866 |… …   Wikipedia

  • Glycogen storage disease type V — Classification and external resources ICD 10 E74.0 ICD 9 271.0 …   Wikipedia

  • Glycogen storage disease type III — Classification and external resources Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H E stain …   Wikipedia

  • glycogen storage disease — Pathol. any of several inherited disorders of glycogen metabolism that result in excess accumulation of glycogen in various organs of the body. Also called glycogenosis /gluy koh jeuh noh sis/. * * * or glycogenosis Any of numerous types of… …   Universalium

  • Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”