ラロニダーゼ。アウドラザイム
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/01/31 05:26:08」(JST)
[Wiki en表示]
| iduronidase, α-L- |
| Identifiers |
| Symbol |
IDUA |
| Entrez |
3425 |
| HUGO |
5391 |
| OMIM |
252800 |
| RefSeq |
NM_000203 |
| UniProt |
P35475 |
| Other data |
| Locus |
Chr. 4 p16.3 |
Iduronidase (EC 3.2.1.76, L-iduronidase, alpha-L-iduronidase) is an enzyme with the system name glycosaminoglycan alpha-L-iduronohydrolase.[1][2][3] This enzyme catalyses the hydrolysis of unsulfated alpha-L-iduronosidic linkages in dermatan sulfate.
It is involved in the degeneration of glycosaminoglycans such as dermatan sulfate and heparan sulfate. It is found in the lysosomes of cells.
Pathology[edit]
Its deficiency is associated with mucopolysaccharidoses (MPS). MPS, a type of lysosomal storage disease, is typed I through VII. Type I is known as Hurler syndrome and type I,S is known as Scheie syndrome, which has a milder prognosis compared to Hurler's. In this syndrome, glycosaminoglycans accumulate in the lysosomes and cause substantial disease in many different tissues of the body.
The defective alpha-L-iduronidase results in an accumulation of heparan and dermatan sulfate within phagocytes, endothelium, smooth muscle cells, neurons, and fibroblasts. Under electron microscopy these structures present as laminated structures called Zebra bodies.
Prenatal diagnosis of this enzyme deficiency is possible.
References[edit]
- ^ Matalon, R., Cifonelli, J.A. and Dorfman, A. (1971). "L-Iduronidase in cultured human fibroblasts and liver". Biochem. Biophys. Res. Commun. 42: 340–345. PMID 4993544.
- ^ Rome, L.H., Garvin, A.J. and Neufeld, E.F. (1978). "Human kidney α-L-iduronidase: purification and characterization". Arch. Biochem. Biophys. 189: 344–353. PMID 30407.
- ^ Srivastava, R.M., Hudson, N., Seymour, F.R. and Weissman, B. (1978). "Preparation of (aryl α-L-idopyranosid)uronic acids". Carbohydr. Res. 60: 315–326.
External links[edit]
- GeneReviews/NCBI/NIH/UW entry on Mucopolysaccharidosis Type I
- Iduronidase at the US National Library of Medicine Medical Subject Headings (MeSH)
|
Hydrolase: sugar hydrolases (EC 3.2)
|
|
| 3.2.1: Glycoside hydrolases |
| Disaccharidase |
- Sucrase/Sucrase-isomaltase/Invertase
- Maltase
- Trehalase
- Lactase
|
|
| Glucosidases |
- Cellulase
- Alpha-glucosidase
- Acid
- Neutral AB
- Neutral C
- Beta-glucosidase
- Debranching enzyme
|
|
| Other |
- Amylase
- Chitinase
- Lysozyme
- Neuraminidase
- NEU1
- NEU2
- NEU3
- NEU4
- Bacterial neuraminidase
- Viral neuraminidase
- Galactosidases
- alpha-Mannosidase
- Glucuronidase
- Hyaluronidase
- Pullulanase
- Glucosylceramidase
- Galactosylceramidase
- Alpha-N-acetylgalactosaminidase
- Alpha-N-acetylglucosaminidase
- Fucosidase
- Hexosaminidase
- Iduronidase
- Maltase-glucoamylase
- Heparanase
|
|
|
3.2.2: Hydrolysing
N-Glycosyl compounds |
- DNA glycosylases: Oxoguanine glycosylase
|
|
- B
- enzm
- 1.1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 10
- 11
- 13
- 14
- 15-18
- 2.1
- 3.1
- 4.1
- 5.1
- 6.1-3
|
|
|
|
|
Metabolism: carbohydrate metabolism · proteoglycan enzymes
|
|
| glycosaminoglycan anabolism |
L-xylulose reductase · L-gulonolactone oxidase · UDP-glucuronate 5'-epimerase · Xylosyltransferase · Sulfotransferase
Heparan sulfate: EXT1 · EXT2
Chondroitin sulfate: PAPSS1 · PAPSS2
|
|
| glycosaminoglycan catabolism |
|
Hunter, Hurler
|
Iduronate-2-sulfatase · Iduronidase
|
|
|
Sanfilippo, Sly
|
Heparan sulfamidase · N-acetyltransferase · Alpha-N-acetylglucosaminidase · Glucuronidase · N-acetylglucosamine-6-sulfatase
|
|
|
Morquio/Maroteaux-Lamy
|
Arylsulfatase B · Galactosamine-6 sulfatase · Beta-galactosidase (GLB1)
|
|
|
|
|
mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m
|
k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon
|
m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
|
|
|
|
UpToDate Contents
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- 1. ムコ多糖症：治療 mucopolysaccharidoses treatment
- 2. ムコ多糖症：合併症 mucopolysaccharidoses complications
English Journal
- Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.
- Al-Sannaa NA1, Bay L2, Barbouth DS3, Benhayoun Y4, Goizet C5, Guelbert N6, Jones SA7, Kyosen SO8, Martins AM8, Phornphutkul C9, Reig C10, Pleat R11, Fallet S11,12, Ivanovska Holder I13.
- Orphanet journal of rare diseases.Orphanet J Rare Dis.2015 Oct 7;10(1):131. doi: 10.1186/s13023-015-0344-4.
- BACKGROUND: Enzyme replacement therapy (ERT) with laronidase, (recombinant human α-L-iduronidase; Aldurazyme) is the primary treatment option for patients with attenuated mucopolysaccharidosis type I (MPS I). This study examined the effect of early ERT on clinical manifestations.METHODS: This multi
- PMID 26446585
- [Hurler syndrome: early diagnosis and treatment].
- Leroux S1, Muller JB2, Boutaric E1, Busnel A1, Lemouel F1, Andro-Garçon M1, Neven B3, Valayannopoulos V4, Vinceslas C1.
- Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie.Arch Pediatr.2014 May;21(5):501-6. doi: 10.1016/j.arcped.2014.02.013. Epub 2014 Mar 31.
- Hurler syndrome, the most severe form of mucopolysaccharidosis type I (MPS I), is a rare lysosomal storage disease. The overall incidence of MPS I is 0.99-1.99/100,000 live births. Accumulation of glycosaminoglycans causes the progressive dysfunction of multiple organs. We report the case of a 3-wee
- PMID 24698225
- Characterization and downstream mannose phosphorylation of human recombinant α-L-iduronidase produced in Arabidopsis complex glycan-deficient (cgl) seeds.
- He X1, Pierce O, Haselhorst T, von Itzstein M, Kolarich D, Packer NH, Gloster TM, Vocadlo DJ, Qian Y, Brooks D, Kermode AR.
- Plant biotechnology journal.Plant Biotechnol J.2013 Dec;11(9):1034-43. doi: 10.1111/pbi.12096. Epub 2013 Jul 31.
- Mucopolysaccharidosis (MPS) I is a lysosomal storage disease caused by a deficiency of α-L-iduronidase (IDUA) (EC 3.2.1.76); enzyme replacement therapy is the conventional treatment for this genetic disease. Arabidopsis cgl mutants are characterized by a deficiency of the activity of N-acetylglucos
- PMID 23898885
Japanese Journal
- Hurler 病の1症例における酵素補充療法の効果
- 田中 あけみ,澤田 智,藤岡 弘季 [他],山野 恒一
- 日本小児科学会雑誌 110(7), 945-950, 2006-07-01
- NAID 10018260492
Related Links
- Indication ALDURAZYME ® (laronidase) is indicated for patients with Hurler and Hurler-Scheie forms of Mucopolysaccharidosis I (MPS I) and for patients with the Scheie form who have moderate to severe symptoms. The risks and ...
- Aldurazyme official prescribing information for healthcare professionals. Includes: indications, dosage, adverse reactions, pharmacology and more. ... Aldurazyme does not contain any preservatives; therefore, after dilution with saline ...
Related Pictures
★リンクテーブル★
[★]
- 英
- laronidase
- 商
- アウドラザイム Aldurazyme
- 関
- 酵素製剤、ムコ多糖症