lipid storage disease

リピドーシス。脂質蓄積症

WordNet

1. an impairment of health or a condition of abnormal functioning
2. (botany) either of the two parts of a bilabiate corolla or calyx
3. either the outer margin or the inner margin of the aperture of a gastropods shell
4. either of two fleshy folds of tissue that surround the mouth and play a role in speaking
5. (computer science) the process of storing information in a computer memory or on a magnetic tape or disk
6. the act of storing something
7. the commercial enterprise of storing goods and materials
8. caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
9. 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

1. (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
2. 女性の話術芸人 =diseur
3. 〈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)
4. (倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料
5. 病気にかかった / 病的な,不健全な(morbid)
6. 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）』「2013/12/07 03:15:50」(JST)

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[Wiki en表示]

Lipid storage disorder
Classification and external resources
ICD-10	E75
ICD-9	272.7
eMedicine	ped/1310
MeSH	D008064

Lipid storage disorders (or lipidoses) are a group of inherited metabolic disorders in which harmful amounts of lipids (fats) accumulate in some of the body’s cells and tissues. People with these disorders either do not produce enough of one of the enzymes needed to metabolize lipids or they produce enzymes that do not work properly. Over time, this excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen and bone marrow.

Lipids are broadly defined as any fat-soluble (lipophilic), naturally occurring molecule, such as fats, oils, waxes, steroids (such as cholesterol and estrogen), sterols and others. Lipids are important parts of the membranes found within and between each cell and in the myelin sheath that coats and protects the nerves.

Inside the cells, lysosomes convert, or metabolize, lipids and proteins into smaller components to provide energy for the body.

Classification

Disorders that store this intracellular material are part of the lysosomal storage diseases family of disorders.

Sphingolipidoses

Main article: Sphingolipidosis

Many lipid storage disorder can be classified into the subgroup of sphingolipidoses, as they relate to sphingolipid metabolism. Members of this group include Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay-Sachs disease, Metachromatic leukodystrophy, multiple sulfatase deficiency and Farber disease. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked. Taken together, sphingolipidoses have an incidence of approximately 1 in 10.000. Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.

Some of the sphingolipidoses may alternatively be classified into either GM1 gangliosidoses or GM2 gangliosidoses. Tay–Sachs disease belongs to the latter.

Other

Other lipid storage disorders that are generally not classified as sphingolipidoses include fucosidosis, Schindler disease and Wolman disease.

Inheritance

Lipid storage diseases can be inherited two ways: Autosomal recessive inheritance occurs when both parents carry and pass on a copy of the faulty gene, but neither parent show signs and symptoms of the condition and is not affected by the disorder. Each child born to these parents have a 25 percent chance of inheriting both copies of the defective gene, a 50 percent chance of being a carrier, and a 25 percent chance of not inheriting either copy of the defective gene. Children of either gender can be affected by an autosomal recessive this pattern of inheritance.

X-linked recessive (or sex linked) inheritance occurs when the mother carries the affected gene on the X chromosome that determines the child’s gender and passes it to her son. Sons of carriers have a 50 percent chance of inheriting the disorder. Daughters have a 50 percent chance of inheriting the X-linked chromosome but usually are not severely affected by the disorder. Affected men do not pass the disorder to their sons but their daughters will be carriers for the disorder.

Diagnosis

Diagnosis of the lipid storage disorders can be achieved through the use of several tests. These tests include clinical examination, biopsy, genetic testing, molecular analysis of cells or tissues, and enzyme assays. Certain forms of this disease can also be diagnosed through urine testing which will detect the stored material. Prenatal testing is also available to determine if the fetus will have the disease or is a carrier.

Treatment

There are no specific treatments for lipid storage disorders, however, there are some highly effective enzyme replacement therapies for people with type 1 Gaucher disease and some patients with type 3 Gaucher disease. There are other treatments such as the prescription of certain drugs like phenytoin and carbamazepine to treat pain for patients with Fabry disease. Furthermore, gene thereapies and bone marrow transplantation may prove to be effective for certain lipid storage disorders. Diet restrictions do not help prevent the buildup of lipids in the tissues.

See also

• Xanthomatosis
• Niemann–Pick disease

References

UpToDate Contents

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• 1. 脂質およびプリン代謝障害による代謝性ミオパチー metabolic myopathies caused by disorders of lipid and purine metabolism
• 2. ゴーシェ病：病因、臨床症状、および診断 gaucher disease pathogenesis clinical manifestations and diagnosis
• 3. ニーマン・ピック病の概要 overview of niemann pick disease
• 4. 代謝性ミオパチーへのアプローチ approach to the metabolic myopathies
• 5. 心血管疾患と同等のリスクと確立した危険因子の概要 overview of the risk equivalents and established risk factors for cardiovascular disease

English Journal

• Effects of Fatty Acids on CYP2A5 and Nrf2 Expression in Mouse Primary Hepatocytes.

• Cui Y1,2, Wang Q2, Yi X1, Zhang X3.
• Biochemical genetics.Biochem Genet.2016 Feb;54(1):29-40. doi: 10.1007/s10528-015-9697-6. Epub 2015 Sep 30.
• Abnormal fatty acid metabolism is observed throughout nonalcoholic fatty liver disease (NAFLD) pathogenesis, and fatty acid storage is an important inducing factor in insulin resistance, lipid oxidation, hepatic cell damage, and inflammation. During NAFLD pathogenesis, changes in blood and liver con
• PMID 26423681

• Induction of autophagy improves hepatic lipid metabolism in glucose-6-phosphatase deficiency.

• Farah BL1, Landau DJ2, Sinha RA1, Brooks ED3, Wu Y4, Fung SY5, Tanaka T6, Hirayama M6, Bay BH4, Koeberl DD7, Yen PM8.
• Journal of hepatology.J Hepatol.2016 Feb;64(2):370-9. doi: 10.1016/j.jhep.2015.10.008. Epub 2015 Oct 20.
• BACKGROUND & AIMS: Glucose-6-phosphatase (G6Pase α, G6PC) deficiency, also known as von Gierke's disease or GSDIa, is the most common glycogen storage disorder. It is characterized by a decreased ability of the liver to convert glucose-6-phosphate (G6P) to glucose leading to glycogen and lipid
• PMID 26462884

• Dietary carbohydrate and control of hepatic gene expression: mechanistic links from ATP and phosphate ester homeostasis to the carbohydrate-response element-binding protein.

• Agius L1.
• The Proceedings of the Nutrition Society.Proc Nutr Soc.2016 Feb;75(1):10-18. Epub 2015 Aug 12.
• Type 2 diabetes and non-alcoholic fatty liver disease (NAFLD) are associated with elevated hepatic glucose production and fatty acid synthesis (de novo lipogenesis (DNL)). High carbohydrate diets also increase hepatic glucose production and lipogenesis. The carbohydrate-response element-binding prot
• PMID 26264689

Japanese Journal

• Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy

• Lin Pengfei,Li Wei,Wen Bing [他],ZHAO Yuying,FENSTER Danielle S,WANG Yongxiang,GONG Yaoqin,YAN Chuanzhu
• Journal of human genetics 57(10), 679-681, 2012-10-01
• NAID 10031122248

• Adipose tissue inflammation and ectopic lipid accumulation [Review]

• , ,
• Endocrine Journal 59(10), 849-857, 2012
• … Obesity may be viewed as a chronic low-grade inflammatory disease as well as a metabolic disease. … In addition to lipid-laden mature adipocytes, adipose tissue is composed of various stromal cells such as preadipocytes, endothelial cells, fibroblasts, and immune cells that may be involved in adipose tissue functions. …
• NAID 130004770327

• My journey into the world of sphingolipids and sphingolipidoses

• Proceedings of the Japan Academy, Series B 88(10), 554-582, 2012
• … Analysis of lipid storage in postmortem brains of patients with amaurotic idiocy led to the recognition of five lysosomal ganglioside storage diseases and identification of their inherited metabolic blocks. … Purification of lysosomal acid sphingomyelinase and ceramidase and analysis of their gene structures were the prerequisites for the clarification of Niemann-Pick and Farber disease. …
• NAID 130002540350

Related Links

• Lipid storage disease - definition of Lipid storage disease in ...

disease /dis·ease/ (dĭ-zēz´) any deviation from or interruption of the normal structure or function of any body part, organ, or system that is ... The traditional view that atherosclerosis is simply a lipid storage disease has recently been ...

• Lipid Storage Diseases Fact Sheet: National Institute of ...

Gaucher disease is the most common of the lipid storage diseases. It is caused by a deficiency of the enzyme glucocerebrosidase. Fatty material can collect in the spleen, liver, kidneys ...

Related Pictures

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★リンクテーブル★

リンク元	「リピドーシス」
拡張検索	「sphingolipid storage disease」
関連記事	「disease」「storage」「lip」

「リピドーシス」

　　[★]

英

lipidosis

同

脂質蓄積症 lipid storage disease、網内系脂肪蓄積症

関

リソソーム病。異脂肪血症、脂質代謝異常、異リポ蛋白血症、脂質蓄積症

分類	疾患	酵素欠損	主要蓄積代謝産物
スフィンゴリピド	GM1ガングリオシドーシス	GM1ガングリオシドβ-ガラクトシダーゼ	GM1ガングリオシド
	GM2ガングリオシドーシス, テイ・サックス病	ヘキソサミニダーゼA	GM2ガングリオシド
スルファチド	ゴーシェ病	グルコセレブロシダーゼ	グルコセレブロシド
	ニーマン・ピック病	スフィンゴミエリナーゼ	スフィンゴミエリン

「sphingolipid storage disease」

　　[★]

スフィンゴ脂質蓄積症

関

sphingolipidosis

「disease」

　　[★]

• n.

疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)

特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)

• something that is very wrong with people's attitudes, way of life or with society.

関

ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness

• 注意

disease ≠ illness ≠ disorder

　 　 　

「storage」

　　[★]

• n.

• 貯蔵

関

pool、pooling、preservation、preserve、reserve、store

　 　 　 　

「lip」

　　[★]

• n.

• 唇、口唇