先天性脂質代謝異常、先天性脂質代謝異常症
WordNet
- (baseball) a failure of a defensive player to make an out when normal play would have sufficed (同)misplay
- departure from what is ethically acceptable (同)wrongdoing
- (computer science) the occurrence of an incorrect result produced by a computer (同)computer error
- a misconception resulting from incorrect information (同)erroneous belief
- part of a statement that is not correct; "the book was full of errors" (同)mistake
- (botany) either of the two parts of a bilabiate corolla or calyx
- either the outer margin or the inner margin of the aperture of a gastropods shell
- either of two fleshy folds of tissue that surround the mouth and play a role in speaking
- to make a mistake or be incorrect (同)mistake, slip
- an oily organic compound insoluble in water but soluble in organic solvents; essential structural component of living cells (along with proteins and carbohydrates) (同)lipide, lipoid
PrepTutorEJDIC
- 《所有・所属》…『の』,…のものである,…に属する・《材料・要素》…『でできた』,から成る・《部分》…『の』[『中の』] ・《数量・単位・種類を表す名詞に付いて》…の・《原因・動機》…『で』,のために(because of) ・《主格関係》…『の』,による,によって・《目的格関係》…『を』,の・《同格関係》…『という』・《関係・関連》…『についての』[『の』],の点で・《抽象名詞などと共に》…の[性質をもつ] ・《『It is』+『形』+『of』+『名』+『to』 doの形で,ofの後の名詞を意味上の主語として》・《分離》…『から』・《起原・出所》…『から』[『の』](out of) ・《『名』+『of』+『a』(『an』)+『名』の形で》…のような・《『名』+『of』+『mine』(『yours, his』など独立所有格)の形で》…の…・《時》(1)《副詞句を作って》…に《形容詞句を作って》…の・《時刻》《米》…前(to,《米》before)
- 〈C〉『誤り』,『まちがい』 / 〈U〉思い違い,誤解 / 〈U〉〈C〉過ち,過失 / 〈U〉(計数の)誤差 / 〈C〉(野球で)エラー,失策
- 〈C〉『くちびる』,口もと / 《複数形で》(発音器官としての)くちびる,口 / 〈U〉《俗》生意気な言葉 / 〈C〉(容器などの)口,へり,縁;(峡谷・火山などの)口 / 〈C〉(植物の)唇弁(しんべん)
- (判断・考え方・選択などで)『誤る』,まちがえる;過ちを犯す,罪を犯す《+『in』+『名』(do『ing』)》 / (正道・目的などから)それる,逸脱する《+『from』+『名』》
- 脂質,あぶら
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/11/08 18:05:50」(JST)
[Wiki en表示]
| Inborn error of lipid metabolism |
| Classification and external resources |
Several fatty acid molecules |
| ICD-10 |
E75, E78 |
| ICD-9 |
272, 277.85 |
| MeSH |
D008052 |
Numerous genetic disorders are caused by errors in fatty acid metabolism. These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to oxidize fatty acids in order to produce energy within muscles, liver, and other cell types.
Some of the more common fatty acid metabolism disorders are:
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Contents
- 1 Coenzyme A dehydrogenase deficiencies
- 2 Other Coenzyme A enzyme deficiencies
- 3 Carnitine related
- 4 Lipid storage
- 5 Other
- 6 See also
- 7 References
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Coenzyme A dehydrogenase deficiencies
- Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCAD) - Very long-chain acyl-coenzyme A dehydrogenase
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD) - Long-chain 3-hydroxyacyl-coenzyme A
- Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD) - Medium-chain acyl-coenzyme A dehydrogenase
- Short-chain acyl-coenzyme A dehydrogenase deficiency (SCAD) - Short-chain acyl-coenzyme A dehydrogenase
- 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADH) - 3-hydroxyacyl-coenzyme A dehydrogenase
Other Coenzyme A enzyme deficiencies
- 2,4 Dienoyl-CoA reductase deficiency - 2,4 Dienoyl-CoA reductase
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency - 3-hydroxy-3-methylglutaryl-CoA lyase
- Malonyl-CoA decarboxylase deficiency - Malonyl-CoA decarboxylase
Carnitine related
- Primary carnitine deficiency - SLC22A5 (carnitine transporter)
- Carnitine-acylcarnitine translocase deficiency - Carnitine-acylcarnitine translocase
- Carnitine palmitoyltransferase I deficiency (CPT) - Carnitine palmitoyltransferase I
- Carnitine palmitoyltransferase II deficiency (CPT) - Carnitine palmitoyltransferase II
Lipid storage
Main article: Lipid storage disorder
- Acid lipase diseases
- Wolman disease
- Cholesteryl ester storage disease
- Gaucher disease
- Niemann-Pick disease
- Fabry disease
- Farber’s disease
- Gangliosidoses
- Krabbé disease
- Metachromatic leukodystrophy
Other
- Spinal muscular atrophy[1][2]
- Mitochondrial trifunctional protein deficiency
- Electron transfer flavoprotein (ETF) dehydrogenase deficiency (GAII & MADD)
- Tangier disease
- Acute fatty liver of pregnancy
See also
- Fatty acid synthase
- Essential fatty acid
- Fatty acid metabolism
- Orthomolecular medicine
References
- ^ Tein, I.; Sloane, A. E.; Donner, E. J.; Lehotay, D. C.; Millington, D. S.; Kelley, R. I. (1995). "Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: Primary or secondary defect(s)?". Pediatric Neurology 12 (1): 21–30. doi:10.1016/0887-8994(94)00100-G. PMID 7748356. edit
- ^ Crawford, T. O.; Sladky, J. T.; Hurko, O.; Besner-Johnston, A.; Kelley, R. I. (1999). "Abnormal fatty acid metabolism in childhood spinal muscular atrophy". Annals of Neurology 45 (3): 337–343. doi:10.1002/1531-8249(199903)45:3<337::AID-ANA9>3.0.CO;2-U. PMID 10072048. edit
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Inborn error of lipid metabolism: dyslipidemia (E78
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| Hyperlipidemia |
- Hypercholesterolemia/Hypertriglyceridemia
- Lipoprotein lipase deficiency/Type Ia
- Familial apoprotein CII deficiency/Type Ib
- Familial hypercholesterolemia/Type IIa
- Combined hyperlipidemia/Type IIb
- Familial dysbetalipoproteinemia/Type III
- Familial hypertriglyceridemia/Type IV
- Xanthoma/Xanthomatosis
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| Hypolipoproteinemia |
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Hypoalphalipoproteinemia/HDL
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- Lecithin cholesterol acyltransferase deficiency
- Tangier disease
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Hypobetalipoproteinemia/LDL
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- Abetalipoproteinemia
- Apolipoprotein B deficiency
- Chylomicron retention disease
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| Lipodystrophy |
- Barraquer–Simons syndrome
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| Other |
- Lipomatosis
- Adiposis dolorosa
- Lipoid proteinosis
- APOA1 familial renal amyloidosis
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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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(LSD) Inborn error of lipid metabolism: lipid storage disorders (E75, 272.7–272.8)
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Sphingolipidoses
(to ceramide) |
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From ganglioside
(gangliosidoses)
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- Ganglioside: GM1 gangliosidoses
- GM2 gangliosidoses (Sandhoff disease
- Tay–Sachs disease
- AB variant)
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From globoside
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- Globotriaosylceramide: Fabry's disease
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From sphingomyelin
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- Sphingomyelin: phospholipid: Niemann–Pick disease (SMPD1-associated
- type C)
Glucocerebroside: Gaucher's disease
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From sulfatide
(sulfatidoses
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- Sulfatide: Metachromatic leukodystrophy
- Multiple sulfatase deficiency
Galactocerebroside: Krabbe disease
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To sphingosine
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| NCL |
- Infantile
- Jansky–Bielschowsky disease
- Batten disease
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| Other |
- Cerebrotendineous xanthomatosis
- Cholesteryl ester storage disease (Lysosomal acid lipase deficiency/Wolman disease)
- Sea-blue histiocyte syndrome
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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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Inborn error of lipid metabolism: fatty-acid metabolism disorders (E71.3, 277.81–277.85)
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| Synthesis |
|
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| Degradation |
| Acyl transport |
- Carnitine
- Primary
- I
- II
- -acylcarnitine
- Adrenoleukodystrophy
|
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| Beta oxidation |
| General |
- Acyl CoA dehydrogenase
- Short-chain
- Medium-chain
- Long-chain 3-hydroxy
- Very long-chain
- Mitochondrial trifunctional protein deficiency: Acute fatty liver of pregnancy
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| Unsaturated |
- 2,4 Dienoyl-CoA reductase deficiency
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| Odd chain |
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| Other |
- 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
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| To acetyl-CoA |
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| Aldehyde |
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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
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.
English Journal
- Ornithine In Vivo Administration Disrupts Redox Homeostasis and Decreases Synaptic Na(+), K (+)-ATPase Activity in Cerebellum of Adolescent Rats: Implications for the Pathogenesis of Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome.
- Zanatta Â1, Viegas CM, Hickmann FH, de Oliveira Monteiro W, Sitta A, de Moura Coelho D, Vargas CR, Leipnitz G, Wajner M.
- Cellular and molecular neurobiology.Cell Mol Neurobiol.2015 Aug;35(6):797-806. doi: 10.1007/s10571-015-0173-y. Epub 2015 Mar 13.
- Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an inborn error of metabolism caused by a defect in the transport of ornithine (Orn) into mitochondrial matrix leading to accumulation of Orn, homocitrulline (Hcit), and ammonia. Affected patients present a variable clinical sympto
- PMID 25772141
- Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.
- Gupta S1, Wang L, Kruger WD.
- Journal of inherited metabolic disease.J Inherit Metab Dis.2015 Aug 1. [Epub ahead of print]
- Cystathionine beta synthase (CBS) deficiency is a recessive inborn error of metabolism characterized by elevated serum total homocysteine (tHcy). Betaine supplementation, which can lower tHcy by stimulating homocysteine remethylation to methionine, is often given to CBS deficient patients in combina
- PMID 26231230
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Adulthood: A Potential Diagnosis in a Patient with Mental Status Changes Suspected of Drug Toxicity.
- Randall M1, Rolf C2, Gibson SM2, Hall PL3, Rinaldo P4, Davis GJ1.
- Journal of forensic sciences.J Forensic Sci.2015 Jul;60(4):1101-3. doi: 10.1111/1556-4029.12808.
- Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a rare but important component of the differential diagnosis for adults with a history of premortem mental status changes and the postmortem finding of hepatic steatosis. This case report describes a 30-year-old white man who, following a peri
- PMID 26223762
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- Numerous genetic disorders are caused by errors in fatty acid metabolism. These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that ...
★リンクテーブル★
[★]
- 英
- inborn error of lipid metabolism
- 関
- 先天性脂質代謝異常症
[★]
- 英
- inborn error of lipid metabolism
- 関
- 先天性脂質代謝異常
[★]
- 関
- fallacy、mistake
[★]
- 関
- a priori、congenital、congenitally
[★]