関: hyperpipecolic acidemia、multiple peroxisomal dysfunction、neonatal adrenoleukodystrophy

WordNet

bring disorder to (同)disarray
a physical condition in which there is a disturbance of normal functioning; "the doctor prescribed some medicine for the disorder"; "everyone gets stomach upsets from time to time" (同)upset
a disturbance of the peace or of public order
not arranged in order (同)unordered

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〈U〉『無秩序』,混乱,乱雑(confusion) / 《しばしば複数形で》(社会的・政治的な)粉争,騒動 / 〈C〉(肉体的・精神的な)不調,異常,障害 / …‘の'秩序を乱す / 〈心身〉‘に'異常を起こさせる

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/05/08 17:05:14」(JST)

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Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions.^[1] This may be due to defects in single enzymes^[2] important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.^[3]

Peroxisome biogenesis disorders [edit]

Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1).^[4]^[5] PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy.^[4]^[5]

PBD-ZSD is most commonly caused by mutations in the PEX1, PEX6, PEX10, PEX12, and PEX26 genes.^[6]^[7] This results in the over-accumulation of very long chain fatty acids and branched chain fatty acids, such as phytanic acid. In addition, PBD-ZSD patients show deficient levels of plasmalogens, ether-phospholipids necessary for normal brain and lung function.

RCDP1 is caused by mutations in the PEX7 gene, which encodes the PTS2 receptor.^[8] RCDP1 patients can develop large tissue stores of branched chain fatty acids, such as phytanic acid, and show reduced levels of plasmalogens.

Name	OMIM	Gene	ICD-10
Zellweger syndrome	214100	PEX1, PEX2, PEX3, PEX5, PEX6, PEX12, PEX14, PEX26	Q87.82
Infantile Refsum disease	266510	PEX1, PEX2, PEX26	E80.3
Neonatal adrenoleukodystrophy	202370	PEX5, PEX1, PEX10, PEX13, PEX26	E71.331
RCDP Type 1	215100	PEX7	Q77.3

Enzyme and transporter defects [edit]

Peroxisomal disorders also include:

Name	OMIM	Gene	ICD-10 NA^[9]
Pipecolic acidemia	600964	PHYH	E80.301
Acatalasia	115500	CAT	E80.310
Hyperoxaluria type 1	259900	AGXT	E80.311
Acyl-CoA oxidase deficiency	264470	ACOX1	E80.313
D-bifunctional protein deficiency	261515	HSD17B4	E80.314
Dihydroxyacetonephosphate acyltransferase deficiency	222765	GNPAT	E80.315
X-linked adrenoleukodystrophy	300100	ABCD1	E71.33
α-Methylacyl-CoA racemase deficiency	604489	AMACR
RCDP Type 2	222765	DHAPAT	Q77.3
RCDP Type 3	600121	AGPS	Q77.3
Adult Refsum disease-1	266500	PHYH	G60.1
Mulibrey nanism	253250	TRIM37

Additional resources for patients and families [edit]

The European Leukodystrophy Foundation

The mission of the ELA is to help and support families affected by leukodystrophy, to stimulate the development of research thanks to the ELA Foundation created in 2005, to raise public awareness, to develop its work at international level. ELA is thus a bridge between all forms of leukodystrophy and a family solidarity network.

The Global Foundation for Peroxisomal Disorders

The mission of The Global Foundation for Peroxisomal Disorders is to help children and families faced with a diagnosis of a Peroxisomal Biogenesis Disorder (in the Zellweger Spectrum of Disorders) and to assist family members and professionals through educational programs, research, and support services.

Rhizo Kids

Rhizokids is dedicated to providing support for families affected by RCDP, promoting awareness of RCDP, and raising funds for RCDP research so that one day we will have a cure!

United Leukodystrophy Foundation

The United Leukodystrophy Foundation is dedicated to helping children and adults who have leukodystrophy and assisting the family members, professionals and support services that serve them. The ULF is committed to the identification, treatment and cure of all leukodystrophies through programs of education, advocacy, research and service.

The Zellweger Baby Support Network

Our mission is to promote, advance, and improve awareness of Zellweger syndrome and other peroxisomal disorders, to assist, support, and aid, financially or otherwise, individuals and families affected by Zellweger syndrome.

References [edit]

^ Wanders, R. J. A.; Waterham, H. R. (2006). "Biochemistry of Mammalian Peroxisomes Revisited". Annual Review of Biochemistry 75: 295–332. doi:10.1146/annurev.biochem.74.082803.133329. PMID 16756494. edit
^ Wanders, R.; Waterham, H. (2006). "Peroxisomal disorders: the single peroxisomal enzyme deficiencies". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 1763: 1707. doi:10.1016/j.bbamcr.2006.08.010. edit
^ Weller, S.; Gould, S. J.; Valle, D. (2003). "Peroxisome Biogenesis Disorders". Annual Review of Genomics and Human Genetics 4: 165–211. doi:10.1146/annurev.genom.4.070802.110424. PMID 14527301. edit
^ ^a ^b Steinberg, S.; Dodt, G.; Raymond, G.; Braverman, N.; Moser, A.; Moser, H. (2006). "Peroxisome biogenesis disorders". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 1763 (12): 1733. doi:10.1016/j.bbamcr.2006.09.010. edit
^ ^a ^b Steinberg, S.; Raymond, G.; Braverman, N.; Moser, A.; Moser*, H.; Pagon, R.; Bird, T.; Dolan, C. et al. (1993). Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. PMID 20301621. |displayauthors= suggested (help) edit
^ Steinberg, S.; Chen, L.; Wei, L.; Moser, A.; Moser, H.; Cutting, G.; Braverman, N. (2004). "The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum". Molecular Genetics and Metabolism 83 (3): 252–63. doi:10.1016/j.ymgme.2004.08.008. PMID 15542397. edit
^ Yik, W. Y.; Steinberg, S. J.; Moser, A. B.; Moser, H. W.; Hacia, J. G. (2009). "Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders". Human Mutation 30: E467. doi:10.1002/humu.20932. PMID 19105186. edit
^ Braverman, N.; Steel, G.; Obie, C.; Moser, A.; Moser, H.; Gould, S. J.; Valle, D. (1997). "Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata". Nature Genetics 15 (4): 369–376. doi:10.1038/ng0497-369. PMID 9090381. edit
^ World Health Organization (7 December 1997). Application of the international classification of diseases to neurology: ICD-NA.. World Health Organization. pp. 119–. ISBN 978-92-4-154502-0. Retrieved 23 November 2010.

External links [edit]

GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
Peroxisomal disorders at the US National Library of Medicine Medical Subject Headings (MeSH)

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UpToDate Contents

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1. ペルオキシソーム病 peroxisomal disorders
2. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要 overview of peripheral nerve and muscle disorders causing hypotonia in the newborn
3. 副腎白質ジストロフィー adrenoleukodystrophy
4. 小児における原発性副腎不全の原因および臨床症状 causes and clinical manifestations of primary adrenal insufficiency in children
5. 先天性代謝異常：分類 inborn errors of metabolism classification

English Journal

Transplantation in inborn errors of metabolism: current considerations and future perspectives.

Boelens JJ1, Orchard PJ, Wynn RF.
British journal of haematology.Br J Haematol.2014 Nov;167(3):293-303. doi: 10.1111/bjh.13059. Epub 2014 Jul 30.
Inborn errors of metabolism (IEM) comprise an assorted group of inherited diseases, some of which are due to disordered lysosomal or peroxisomal function and some of which might be improved following haemopoietic cell transplantation (HCT). In these disorders, the onset in infancy or early childhood
PMID 25074667

Identification of the Mitochondrial MSRB2 as a Binding Partner of LG72.

Otte DM1, Raskó T, Wang M, Dreiseidler M, Drews E, Schrage H, Wojtalla A, Höhfeld J, Wanker E, Zimmer A.
Cellular and molecular neurobiology.Cell Mol Neurobiol.2014 Nov;34(8):1123-30. doi: 10.1007/s10571-014-0087-0. Epub 2014 Jul 31.
Genetic studies have linked the evolutionary novel, anthropoid primate-specific gene locus G72/G30 in the etiology of schizophrenia and other psychiatric disorders. However, the function of the protein encoded by this locus, LG72, is currently controversially discussed. Some studies have suggested t
PMID 25078755

Peripheral nervous system defects in a mouse model for peroxisomal biogenesis disorders.

Hanson MG1, Fregoso VL2, Vrana JD3, Tucker CL3, Niswander LA4.
Developmental biology.Dev Biol.2014 Nov 1;395(1):84-95. doi: 10.1016/j.ydbio.2014.08.026. Epub 2014 Aug 28.
Peroxisome biogenesis disorders (PBD) are autosomal recessive disorders in humans characterized by skeletal, eye and brain abnormalities. Despite the fact that neurological deficits, including peripheral nervous system (PNS) defects, can be observed at birth in some PBD patients including those with
PMID 25176044

Japanese Journal

極長鎖脂肪酸の反復検査で診断し得たD-bifunctional protein欠損症の1例

塩田睦記,舟塚真,小田絵里 [他],白戸由理,竹下暁子,石垣景子,齋藤加代子,下澤伸行,大澤真木子,SHIODA Mutsuki,FUNATSUKA Makoto,ODA Eri,SHIRATO Yuri,TAKESHITA Akiko,ISHIGAKI Keiko,SAITO Kayoko,SHIMOZAWA Nobuyuki,OSAWA Makiko
東京女子医科大学雑誌 83(E1), E103-E106, 2013-01-31
D-bifunctional protein欠損症(以下DBP欠損症)は、ペルオキシゾーム病の1型でβ酸化系酵素単独欠損症である。我々は、病初期に非典型的な臨床像を呈し、徐々に特徴的な経過となったDBP欠損症の1例を経験したので報告する。,症例は家族歴のない2歳2か月の女児で新生児期発症の難治性てんかんと重度精神運動発達遅滞、特異顔貌、肝脾腫があった。生後4か月時には筋緊張は亢進し、極長鎖脂肪酸は …
NAID 110009559397

Drosophila Carrying Pex3 or Pex16 Mutations Are Models of Zellweger Syndrome That Reflect Its Symptoms Associated with the Absence of Peroxisomes

Nakayama Minoru,Sato Hiroyasu,Okuda Takayuki,Fujisawa Nao,Kono Nozomu,Arai Hiroyuki,Suzuki Emiko,Umeda Masato,Ishikawa Hiroyuki O.,Matsuno Kenji
PLOS ONE 6(8), 2011-08
… The human peroxin genes PEX3 or PEX16 are required for peroxisomal membrane protein targeting, and their mutations cause Zellweger syndrome, a class of PBDs. … The phenotypes of our Zellweger syndrome model flies, such as larval lethality in pex3, and reduced size, shortened longevity, locomotion defects, and abnormal lipid metabolisms in pex16, were reminiscent of symptoms of this disorder, although the Drosophila pex16 mutant does not recapitulate the infant death of Zellweger syndrome. …
NAID 120004996597

A Novel Fluorescent Sensor Protein for Visualization of Redox States in the Cytoplasm and in Peroxisomes.

Yano Taisuke,Oku Masahide,Akeyama Natsuko,Itoyama Akinori,Yurimoto Hiroya,Kuge Shusuke,Fujiki Yukio,Sakai Yasuyoshi
Molecular and cellular biology 30(15), 3758-3766, 2010-08
… http://www.kyoto-u.ac.jp/ja/news_data/h/h1/news6/2010/100525_1.htmReactive oxygen species are generated within peroxisomes during peroxisomal metabolism. … Interestingly, we observed that the redox state of the cytosol of cell mutants for peroxisome-assembly, regarded as models for a neurological metabolic disorder, was more reductive than that of the wild-type cells in yeast and CHO cells. …
NAID 120002182833

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リンク元	「ペルオキシソーム病」「multiple peroxisomal dysfunction」「hyperpipecolic acidemia」
関連記事	「disorder」「peroxisomal」