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a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/11/25 11:22:30」(JST)

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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.^[1] 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

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.^[2]

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.^[3] Diet restrictions do not help prevent the buildup of lipids in the tissues.^[2]

References

^ "Lipid Storage Diseases Fact Sheet: National Institute of Neurological Disorders and Stroke (NINDS)".
^ ^a ^b ^ "Lipid Storage Diseases Fact Sheet: National Institute of Neurological Disorders and Stroke (NINDS)".
^ Ierardi-Curto, Lynne MD, PhD. "Lipid Storage Disorders." Medscape. 30 Sept. 2010. 6 Dec 2011. <http://emedicine.medscape.com/article/945966-overview>.

UpToDate Contents

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1. ニーマン・ピック病の概要 overview of niemann pick disease
2. リポ蛋白糸球体症 lipoprotein glomerulopathy
3. 異染性白質ジストロフィー metachromatic leukodystrophy
4. アスパルトアシラーゼ欠乏症（カナバン病） aspartoacylase deficiency canavan disease
5. アミオダロンの主な副作用 major side effects of amiodarone

English Journal

[Enzyme replacement therapy for Gaucher disease introduced in late adulthood].

Juhász P, Tóth B, Maródi L, Erdos M.SourceDebreceni Egyetem, Orvos- és Egészségtudományi Centrum Infektológiai és Gyermekimmunológiai Tanszék Debrecen Nagyerdei krt.
Orvosi hetilap.Orv Hetil.2012 Feb 19;153(7):264-70.
Gaucher disease is the most prevalent lysosomal storage disorder caused by recessive mutation of the beta-glucocerebrosidase gene, which leads to massive lysosomal accumulation of glucocerebrosids especially in macrophages of bone marrow, liver and spleen. The most common presenting signs and sympto
PMID 22318527

Influence of chronic stress on the compositions of hepatic cholesterol and triglyceride in male Wistar rats fed a high fat diet.

Gao S, Han X, Fu J, Yuan X, Sun X, Li Q.SourceDepartment of Physiology, China Pharmaceutical University, Nanjing, China.
Hepatology research : the official journal of the Japan Society of Hepatology.Hepatol Res.2012 Feb 9. doi: 10.1111/j.1872-034X.2011.00961.x. [Epub ahead of print]
Aim: We determined the influence of chronic stress (CS) on the compositions of hepatic cholesterol and triglyceride (TG) in rats fed a high fat diet (HFD). Methods: Male Wistar rats were fed either a standard diet or a HFD and half of the HFD fed rats were given CS (electric foot shock assiste
PMID 22321167

Japanese Journal

オランザピン服用患者と脂質代謝異常

天野託,保坂成俊,高見浩,杉山千絵,織田一衛,森川龍一
日本神経精神薬理学雑誌 = Japanese journal of psychopharmacology 32(5), 257-261, 2012-11-25
NAID 10031133447

Influence of chronic stress on the compositions of hepatic cholesterol and triglyceride in male Wistar rats fed a high fat diet

GAO Siyuan,HAN Xue,FU Jihua,YUAN Xiaoling,SUN Xing,LI Qiang
Hepatology research : the official journal of the Japan Society of Hepatology 42(7), 686-695, 2012-07-01
NAID 10031144285

アルコール性肝硬変患者に生じた舌対称性脂肪腫症の1例

五十嵐友樹,飯田明彦,小林孝憲 [他],朔敬,林孝文,高木律男
日本口腔外科学会雑誌 57(3), 119-123, 2011-03-20
NAID 10030271637

Related Pictures

★リンクテーブル★

リンク元	「ゴーシェ病」「リピドーシス」「病理学」「cherry-red spot」「lipoidosis」
拡張検索	「mucolipidosis type I」「sphingolipidosis」「mucolipidosis type III」「drug-induced lipidosis」

「ゴーシェ病」

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

　　[★]

英: Gaucher disease, Gaucher's disease
同: グルコシルセラミドーシス glucosyl ceramidosis、Gaucher病
関: リピドーシス lipidosis。リソソーム蓄積症、スフィンゴ脂質蓄積症。リソソーム病

表：HIM.2452
first aid step1 2006 p.99

グルコセレブロシド(グルコシルセラミド)－－(×グルコセレブロシダーゼ)－→セラミド + グルコース

概念

グルコセレブロシダーゼ(β-グルコシダーゼ, グルコシルセラミダーゼ)の欠損によって発症する。
グルコセレブロシド(グルコシルセラミド)が細網内皮系(肝臓、脾臓、骨髄、リンパ節)を中心とし、神経細胞など広く蓄積

病型

I型(成人型, 慢性非神経型)
II型(乳児型, 急性神経障害型)
III型(若年型, 亜急性神経型)

遺伝形式

常染色体劣性遺伝

病変形成＆病理

網内系(肝臓、脾臓、骨髄、リンパ節)にGaucher細胞を認める(PAS陽性)

症候

主徴：肝脾腫、貧血、骨痛、出血傾向
肝脾腫、大腿骨無菌性壊死、皮膚色素沈着、脳神経症状。

hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher’s cells (macrophages) (first aid step1 p.99)

I型

神経症状を伴わない
肝脾腫、貧血、骨症状

II型

乳児期に発症し、急激に進行。
肝脾腫
身体発達：遅延?
神経症状：痙攣、後弓反張、咽頭痙攣
精神症状：知能障害、精神発達遅滞？
予後：

6ヶ月までに発症。
予後は2年程度

III型

肝脾腫に加え神経症状を伴うが、その発症は2型に比べて遅く、神経症状の程度も進行も緩徐。

検査

血算

汎血球減少

肝生検

グルコセレブロシド蓄積

骨髄穿刺

ゴーシェ細胞(肝臓、脾臓、骨髄、リンパ節に見られる。PAS陽性の巨大細胞)

「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
スフィンゴリピド	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
スルファチド	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