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

PrepTutorEJDIC

〈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）』「2017/12/22 09:23:05」(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

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

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

References

^ 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.
^ Wanders, R.; Waterham, H. (2006). "Peroxisomal disorders: the single peroxisomal enzyme deficiencies". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1763: 1707–20. doi:10.1016/j.bbamcr.2006.08.010. PMID 17055078.
^ 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.
^ ^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): 1733–48. doi:10.1016/j.bbamcr.2006.09.010. PMID 17055079.
^ ^a ^b Steinberg, S.; Raymond, G.; Braverman, N.; Moser, A.; Pagon, H.; Adam, R.; Bird, T.; Dolan, C.; Fong, K.; Stephens, K. (1993). "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum". PMID 20301621.
^ 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): 252–263. doi:10.1016/j.ymgme.2004.08.008. PMID 15542397.
^ 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 (3): E467–E480. doi:10.1002/humu.20932. PMC 2649967 . PMID 19105186.
^ 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.
^ 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

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)

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. ペルオキシソーム病 peroxisomal disorders
2. 副腎白質ジストロフィー adrenoleukodystrophy
3. 先天性代謝異常：分類 inborn errors of metabolism classification
4. 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
5. 遺伝性疾患に伴う神経障害 neuropathies associated with hereditary disorders

English Journal

Peroxisome-mitochondria interplay and disease.

Schrader M1, Costello J, Godinho LF, Islinger M.
Journal of inherited metabolic disease.J Inherit Metab Dis.2015 Jul;38(4):681-702. doi: 10.1007/s10545-015-9819-7. Epub 2015 Feb 17.
Peroxisomes and mitochondria are ubiquitous, highly dynamic organelles with an oxidative type of metabolism in eukaryotic cells. Over the years, substantial evidence has been provided that peroxisomes and mitochondria exhibit a close functional interplay which impacts on human health and development
PMID 25687155

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Rossi M1, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC.
Pediatric radiology.Pediatr Radiol.2015 Jul;45(7):965-76. doi: 10.1007/s00247-014-3257-9. Epub 2015 Feb 3.
Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-characterised example is the Smith-Lemli-Opitz syndrome. Nine other disorders are known, name
PMID 25646736

Japanese Journal

遺伝性尿細管機能異常症のup to date

日本小児腎臓病学会雑誌 31(1), 12-20, 2018
NAID 130006707738

Transcriptome Analysis of K-877 (a Novel Selective PPARα Modulator (SPPARMα))-Regulated Genes in Primary Human Hepatocytes and the Mouse Liver

Ｊｏｕｒｎａｌ　ｏｆ　Ａｔｈｅｒｏｓｃｌｅｒｏｓｉｓ　ａｎｄ　Ｔｈｒｏｍｂｏｓｉｓ 22(8), 754-772, 2015
NAID 130005095007

Fenretinide Ameliorates Insulin Resistance and Fatty Liver in Obese Mice

Ｂｉｏｌｏｇｉｃａｌ　＆　Ｐｈａｒｍａｃｅｕｔｉｃａｌ　Ｂｕｌｌｅｔｉｎ 35(3), 369-375, 2012
NAID 130001872318

「disorder」

Peroxisomal disorder
	Basic structure of a peroxisome
Classification and external resources
Specialty	endocrinology
ICD-10	E80.3
ICD-9-CM	277.86
eMedicine	neuro/309
MeSH	D018901
	[edit on Wikidata]

　　[★]

障害：個人的苦痛や機能の障害があるので「疾病」とは言えるものの、その背景にある臓器障害がもう一つはっきりしない場合に用いられる。(PSY.9)

n.

an untidy state; a lack of order or organization (⇔order)
violent behaviour of large groups of people
an illness that cause a part of the body to stop functioning correctly

注意

disease <> illness <> disorder

vt.

乱す、乱雑にする。(人)の(心身の)調子を狂わせる。

vi.

「peroxisomal」

　　[★]

ペルオキシソームの

関: peroxisome

[pmid16756494-1] 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.

[pmid17055078-2] Wanders, R.; Waterham, H. (2006). "Peroxisomal disorders: the single peroxisomal enzyme deficiencies". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1763: 1707–20. doi:10.1016/j.bbamcr.2006.08.010. PMID 17055078.

[pmid14527301-3] 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.

[pmid17055079-4] 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): 1733–48. doi:10.1016/j.bbamcr.2006.09.010. PMID 17055079.

[pmid20301621-5] Steinberg, S.; Raymond, G.; Braverman, N.; Moser, A.; Pagon, H.; Adam, R.; Bird, T.; Dolan, C.; Fong, K.; Stephens, K. (1993). "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum". PMID 20301621.

[pmid15542397-6] 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): 252–263. doi:10.1016/j.ymgme.2004.08.008. PMID 15542397.

[pmid19105186-7] 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 (3): E467–E480. doi:10.1002/humu.20932. PMC 2649967 . PMID 19105186.

[pmid9090381-8] 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.

[Organization1997-9] 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.

v t e Genetic disorder, organelle: Peroxisomal disorders and lysosomal structural disorders (E80.3, 277.86)
Peroxisome biogenesis disorder	Zellweger syndrome Neonatal adrenoleukodystrophy Infantile Refsum disease Adult Refsum disease-2 RCP 1
Enzyme-related	Acatalasia RCP 2&3 Mevalonate kinase deficiency D-bifunctional protein deficiency Adult Refsum disease-1
Transporter-related	X-linked adrenoleukodystrophy
Lysosomal	Danon disease
See also: proteins, intermediates

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案内

案内

peroxisomal disorders