脂質代謝異常疾患

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
(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
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
the organic processes (in a cell or organism) that are necessary for life (同)metabolic_process
not arranged in order (同)unordered

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
〈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)
脂質,あぶら
新陳代謝,物質交代

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/12/14 19:43:03」(JST)

wiki en

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:

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

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

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.
^ 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.

UpToDate Contents

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1. 代謝性ミオパチーへのアプローチ approach to the metabolic myopathies
2. 高トリグリセリド血症患者に対するアプローチ approach to the patient with hypertriglyceridemia
3. 新生児胆汁うっ滞の原因 causes of neonatal cholestasis
4. LDLコレステロール代謝の遺伝性疾患 inherited disorders of ldl cholesterol metabolism
5. 代謝性ミオパチーの原因 causes of metabolic myopathies

English Journal

An acetone bio-sniffer (gas phase biosensor) enabling assessment of lipid metabolism from exhaled breath.

Ye M1, Chien PJ1, Toma K2, Arakawa T2, Mitsubayashi K3.
Biosensors & bioelectronics.Biosens Bioelectron.2015 Nov 15;73:208-13. doi: 10.1016/j.bios.2015.04.023. Epub 2015 Apr 11.
Several volatile organic compounds (VOCs) are released from human breath or skin. Like chemical substances in blood or urine, some of these vapors can provide valuable information regarding the state of the human body. A highly sensitive acetone biochemical gas sensor (bio-sniffer) was developed and
PMID 26079672

Short term exendin-4 treatment reduces markers of metabolic disorders in female offspring of obese rat dams.

Chan YL1, Saad S2, Simar D3, Oliver B1, McGrath K1, Reyk Dv1, Bertrand PP4, Gorrie C1, Pollock C5, Chen H6.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience.Int J Dev Neurosci.2015 Nov;46:67-75. doi: 10.1016/j.ijdevneu.2015.05.009. Epub 2015 Aug 10.
OBJECTIVES: Maternal obesity imposes significant health risks in the offspring including diabetes and dyslipidemia. We previously showed that the hypoglycaemic agent exendin-4 (Ex-4) administered from weaning can reverse the maternal impact of 'transmitted disorders' in such offspring. However daily
PMID 26287659

14-3-3β and γ differentially regulate peroxisome proliferator activated receptor γ2 transactivation and hepatic lipid metabolism.

Park S1, Yoo S1, Kim J1, An HT1, Kang M1, Ko J2.
Biochimica et biophysica acta.Biochim Biophys Acta.2015 Oct;1849(10):1237-1247. doi: 10.1016/j.bbagrm.2015.08.002. Epub 2015 Aug 7.
Peroxisome proliferator activated receptor (PPAR) γ2 plays important roles in glucose and lipid metabolism in hepatocytes. PPARγ2 is involved in metabolic disorders, including obesity, diabetes, and fatty liver disease. Although the 14-3-3 proteins participate in a variety of cell signal pathways,
PMID 26260846

Japanese Journal

The α-tocopherol status and expression of α-tocopherol-related proteins in methionine-choline deficient rats treated with vitamin E

Miyazaki Hiroshi,Takitani Kimitaka,Koh Maki,Yoden Atsushi,Tamai Hiroshi
Journal of Clinical Biochemistry and Nutrition 54(3), 190-197, 2014
… Non-alcoholic fatty liver disease is the most common liver disorder in developed countries, and its incidence is increasing in all population groups. … The effects were assessed by measuring lipid peroxidation, α-tocopherol levels, and the expression of α-tocopherol-related proteins in the liver. … In vitamin E-treated methionine-choline deficient rats, lipid peroxidation was reduced, but liver histopathological changes were not improved. …
NAID 130004466749

大豆たん白質が食餌性マグネシウム欠乏障害の改善に及ぼす効果のトランスクリプトーム解析 (第15回研究報告会記録)

石島智子,米光翔吾,中村紀章 [他]
大豆たん白質研究 15(33), 55-60, 2013-03
NAID 40019748632

肥満症と糖・脂質代謝異常 : 酸化ストレスと性ホルモンの観点から (特集肥満症治療) -- (肥満症の病態)

向井康祐,福原淳範,大月道夫 [他]
ホルモンと臨床 61(2), 89-95, 2013-02
NAID 40020219164

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★リンクテーブル★

リンク元	「脂質代謝異常疾患」
関連記事	「disorder」「lip」

「脂質代謝異常疾患」

Inborn error of lipid metabolism
	Several fatty acid molecules
Classification and external resources
Specialty	endocrinology
ICD-10	E75, E78
ICD-9-CM	272, 277.85
MeSH	D008052
	[edit on Wikidata]