偽性ハーラー・ポリジストロフィー
WordNet
- (often used in combination) not genuine but having the appearance of; "a pseudo esthete"; "pseudoclassic"
PrepTutorEJDIC
- 偽りの;見せかけの
- 投手
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/09/20 12:45:49」(JST)
[Wiki en表示]
| Pseudo-Hurler polydystrophy |
| Classification and external resources |
| ICD-10 |
E77.0 |
| ICD-9 |
272.7 |
| OMIM |
252600 |
| DiseasesDB |
29378 |
| MeSH |
D009081 |
Pseudo-Hurler polydystrophy, also referred to as mucolipidosis III (ML III), is a lysosomal storage disease closely related to I-cell disease (ML II).[1] This disorder is called Pseudo-Hurler because it resembles a mild form of Hurler syndrome, one of the mucopolysaccharide (MPS) diseases.
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Contents
- 1 Pathophysiology
- 2 Presentation
- 3 Treatment
- 4 See also
- 5 References
- 6 External links
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Pathophysiology
As in Mucolipidosis II, Mucolipidosis III results from genetic defects in GlcNAc phosphotransferase (N-acetylglucosamine-1-phosphotransferase). However, ML III produces less severe symptoms and progresses more slowly, probably because the defect in GlcNAc phosphotranspherase lies in its protein recognition domain.[2] Therefore, the catalytic domain retains some of its activity, resulting in a smaller accumulation of carbohydrates, lipids, and proteins in the inclusion bodies.
Presentation
Symptoms of ML III are often not noticed until the child is 3–5 years of age. Patients with ML III are generally of normal intelligence (trait) or have only mild mental retardation. These patients usually have skeletal abnormalities, coarse facial features, short height, corneal clouding, carpal tunnel syndrome, aortic valve disease and mild enlargement of organs. Some children with severe forms of this disease do not live beyond childhood. However, there is a great variability among patients, and individuals with ML III can survive until their fourth or fifth decade of life.
Treatment
There is no cure for Pseudo-Hurler Polydystrophy/Mucolipidosis IIIA. Treatment is limited to controlling or reducing symptoms associated with this disorder. Physio-therapy, particularly hydrotherapy has proven effective at relieving muscle stiffness and increasing mobility. The use of crutches, a wheelchair or scooters are treatment options as the metabolic bone disease progresses. The insertion of rods in the spine to stabilize the vulnerable areas can treat scoliosis. Heart valve replacement surgery may be necessary as this disorder progresses.
See also
- Mucolipidosis
- I-cell disease
References
- ^ Bargal R, Zeigler M, Abu-Libdeh B et al. (August 2006). "When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients". Mol. Genet. Metab. 88 (4): 359–63. doi:10.1016/j.ymgme.2006.03.003. PMID 16630736. http://linkinghub.elsevier.com/retrieve/pii/S1096-7192(06)00105-3.
- ^ Murray, R, Granner, D, and Rodwell, V. (2006). Harper's Illustrated Biochemistry. 27th ed. New York: Lange Medical Books/McGraw-Hill.
External links
- Mucolipidosis type 3 A at NIH's Office of Rare Diseases
- Hide and Seek Foundation For Lysosomal Disease Research
- mucolipidoses at NINDS - original text of article derived from detail sheet available here
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(LSD) Inborn error of carbohydrate metabolism: glycoproteinosis (E77, 271.8)
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| Anabolism |
Dolichol kinase deficiency · Congenital disorder of glycosylation
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Post-translational modification
of lysosomal enzymes |
Mucolipidosis: I-cell disease/II · Pseudo-Hurler polydystrophy/III
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| Catabolism |
Aspartylglucosaminuria · Fucosidosis · mannosidosis (Alpha-mannosidosis, Beta-mannosidosis) · Sialidosis · Schindler disease
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| Other |
solute carrier family (Salla disease) · Galactosialidosis
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mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m
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k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon
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m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
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UpToDate Contents
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English Journal
- Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.
- Liu S1, Zhang W2, Shi H3, Meng Y3, Qiu Z4.Author information 1Department of Pediatrics, PUMC Hospital, CAMS&PUMC, Beijing 100730, PR China.2Clinical Research Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, PR China.3Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, PR China.4Department of Pediatrics, PUMC Hospital, CAMS&PUMC, Beijing 100730, PR China. Electronic address: zhengqingqiu33@aliyun.com.AbstractBACKGROUND: Mucolipidosis type III gamma (MLIII gamma) is an autosomal recessive disease caused by a mutation in the GNPTG gene, which encodes the γ subunit of the N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase). This protein plays a key role in the transport of lysosomal hydrolases to the lysosome.
- Gene.Gene.2014 Feb 10;535(2):294-8. doi: 10.1016/j.gene.2013.11.010. Epub 2013 Dec 6.
- BACKGROUND: Mucolipidosis type III gamma (MLIII gamma) is an autosomal recessive disease caused by a mutation in the GNPTG gene, which encodes the γ subunit of the N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase). This protein plays a key role in the transport of lysosomal hyd
- PMID 24316125
- Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry.
- Bonesso L, Piraud M, Caruba C, Van Obberghen E, Mengual R, Hinault C1.Author information 1Biochemistry Laboratory, University Hospital, Nice, France. hinault@unice.fr.AbstractBACKGROUND: Oligosaccharidoses, which belong to the lysosomal storage diseases, are inherited metabolic disorders due to the absence or the loss of function of one of the enzymes involved in the catabolic pathway of glycoproteins and indirectly of glycosphingolipids. This enzymatic deficiency typically results in the abnormal accumulation of uncompletely degraded oligosaccharides in the urine. Since the clinical features of many of these disorders are not specific for a single enzyme deficiency, unambiguous screening is critical to limit the number of costly enzyme assays which otherwise must be performed.
- Orphanet journal of rare diseases.Orphanet J Rare Dis.2014 Feb 6;9(1):19. doi: 10.1186/1750-1172-9-19.
- BACKGROUND: Oligosaccharidoses, which belong to the lysosomal storage diseases, are inherited metabolic disorders due to the absence or the loss of function of one of the enzymes involved in the catabolic pathway of glycoproteins and indirectly of glycosphingolipids. This enzymatic deficiency typica
- PMID 24502792
- Loss of TRPML1 promotes production of reactive oxygen species: is oxidative damage a factor in mucolipidosis type IV?
- Coblentz J1, St Croix C, Kiselyov K1.Author information 1*Department of Biological Sciences, University of Pittsburgh, 4249 Fifth Ave, Pittsburgh, PA 15260, U.S.A.AbstractTRPML1 (transient receptor potential mucolipin 1) is a lysosomal ion channel permeable to cations, including Fe2+. Mutations in MCOLN1, the gene coding for TRPML1, cause the LSD (lysosomal storage disease) MLIV (mucolipidosis type IV). The role of TRPML1 in the cell is disputed and the mechanisms of cell deterioration in MLIV are unclear. The demonstration of Fe2+ buildup in MLIV cells raised the possibility that TRPML1 dissipates lysosomal Fe2+ and prevents its accumulation. Since Fe2+ catalyses the production of ROS (reactive oxygen species), we set out to test whether or not the loss of TRPML1 promotes ROS production by Fe2+ trapped in lysosomes. Our data show that RPE1 (retinal pigmented epithelial 1) cells develop a punctate mitochondrial phenotype within 48 h of siRNA-induced TRPML1-KD (knockdown). This mitochondrial fragmentation was aggravated by Fe2+ exposure, but was reversed by incubation with the ROS chelator α-Toc (α-tocopherol). The exposure of TRPML1-KD cells to Fe2+ led to loss of ΔΨm (mitochondrial membrane potential), ROS buildup, lipid peroxidation and increased transcription of genes responsive to cytotoxic oxidative stress in TRPML1-KD cells. These data suggest that TRPML1 redistributes Fe2+ between the lysosomes and the cytoplasm. Fe2+ buildup caused by TRPML1 loss potentiates ROS production and leads to mitochondrial deterioration. Beyond suggesting a new model for MLIV pathogenesis, these data show that TRPML1's role in the cell extends outside lysosomes.
- The Biochemical journal.Biochem J.2014 Jan 15;457(2):361-8. doi: 10.1042/BJ20130647.
- TRPML1 (transient receptor potential mucolipin 1) is a lysosomal ion channel permeable to cations, including Fe2+. Mutations in MCOLN1, the gene coding for TRPML1, cause the LSD (lysosomal storage disease) MLIV (mucolipidosis type IV). The role of TRPML1 in the cell is disputed and the mechanisms of
- PMID 24192042
Japanese Journal
- 臨床症状に大きな差のあるムコリピドーシスＩＩＩ型の２家系 ムコリピドーシスＩＩ・ＩＩＩ型分類の再評価:ムコリピドーシスII・III型分類の再評価
Related Links
- Pseudo-Hurler polydystrophy is inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother. Recessive genetic disorders occur when ...
- Mucolipidosis alpha/beta (ML III alpha/beta; pseudo-Hurler polydystrophy), a slowly progressive disorder with clinical onset at approximately age three years, is characterized by slow growth rate and subnormal stature ...
★リンクテーブル★
[★]
- 英
- mucolipidosis type III、mucolipidosis III, mucolipidosis type 3
- 同
- ムコ脂質症3型、ムコ脂質症III型、偽性ハーラー・ポリジストロフィー 偽性Hurlerポリジストロフィー pseudo-Hurler polydystrophy、さくらんぼ赤色斑ミオクローヌス症候群 cherry red spot myoclonus syndrome
- 関
- ムコリピドーシス ムコリピド症 mucolipidosis、シアリドーシス sialidosis
- 英
- cherry red spot myoclonus syndrome
- 関
- I細胞病、ムコリピドーシス、シアリドーシス、ムコリピドーシスIV型、ムコ脂質症I型、ムコリピドーシスI型、ムコ脂質症II型、ムコリピドーシスII型、ムコ脂質症III型、ムコリピドーシスIII型、偽性ハーラー・・リジストロフィー、ムコリピド症
[show details]
[★]
ムコリピドーシスII型、ムコ脂質症II型
- 関
- cherry red spot myoclonus syndrome、I-cell disease、mucolipidosis、mucolipidosis I、mucolipidosis II、mucolipidosis III、mucolipidosis IV、mucolipidosis type I、mucolipidosis type III、mucolipidosis type IV、pseudo-Hurler polydystrophy、sialidosis
[★]
ムコリピドーシスIV型、ムコ脂質症IV型
- 関
- cherry red spot myoclonus syndrome、I-cell disease、mucolipidosis、mucolipidosis I、mucolipidosis II、mucolipidosis III、mucolipidosis IV、mucolipidosis type I、mucolipidosis type II、mucolipidosis type III、pseudo-Hurler polydystrophy、sialidosis
[★]
ムコリピドーシスI型、ムコ脂質症I型
- 関
- cherry red spot myoclonus syndrome、I-cell disease、mucolipidosis、mucolipidosis I、mucolipidosis II、mucolipidosis III、mucolipidosis IV、mucolipidosis type II、mucolipidosis type III、mucolipidosis type IV、pseudo-Hurler polydystrophy、sialidosis
[★]
- 関
- counterfeit、false、mock、sham、spurious