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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/10/25 22:39:19」(JST)

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Mucolipidosis (ML) is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells.

When originally named, the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses.^[1] A biochemical understanding of these conditions has changed how they are classified. Although four conditions (I, II, III, and IV) have been labeled as mucolipidoses, type I (sialidosis) is now classified as a glycoproteinosis,^[1] and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis.^[2]

ML II and III

For details, see I-cell disease (type II) and Pseudo-Hurler polydystrophy (type III)

The other two types are closely related.

Mucolipidosis types II and III (ML II and ML III) result from a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase, which phosphorylates target carbohydrate residues on N-linked glycoproteins. Without this phosphorylation, the glycoproteins are not destined for lysosomes, and they escape outside the cell.

Genetics

Mucolipidosis has an autosomal recessive pattern of inheritance.

The mucolipidoses are inherited in an autosomal recessive manner, that is, they occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry a defective gene, each of their children faces a one in four chance of developing one of the MLs. At the same time, each child also faces a one in two chance of inheriting only one copy of the defective gene. People who have only one defective gene are known as carriers. These individuals do not develop the disease but they can pass the defective gene on to their own children. Because the defective genes involved in certain forms of ML are known, tests can identify people who are carriers in some instances.

Diagnosis

The diagnosis of ML is based on clinical symptoms, a complete medical history, and certain laboratory tests.

References

^ ^a ^b Julia A. McMillan; Ralph D. Feigin; Catherine DeAngelis; M. Douglas Jones (1 April 2006). Oski's pediatrics: principles & practice. Lippincott Williams & Wilkins. pp. 1–. ISBN 978-0-7817-3894-1. Retrieved 3 November 2010.
^ "ICD-10:". Retrieved 2010-11-03.

UpToDate Contents

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1. ムコ多糖症：臨床的特徴および診断 mucopolysaccharidoses clinical features and diagnosis
2. アシュケナージ系ユダヤ人集団における遺伝的疾患の出生前スクリーニング prenatal screening for genetic disease in the ashkenazi jewish population
3. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
4. 小児における睡眠が関係する呼吸障害の機序および素因 mechanisms and predisposing factors for sleep related breathing disorders in children
5. 遺伝性運動失調の概要 overview of the hereditary ataxias

English Journal

Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis-A Case Report.

Krasuska-Sławińska E1, Polnik D2, Rokicki D3, Koeber B4.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons.J Oral Maxillofac Surg.2015 Oct;73(10):1962.e1-5. doi: 10.1016/j.joms.2015.06.176. Epub 2015 Jul 8.
Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder caused by a mutation in the ANTXR2 gene encoding a transmembranous protein involved in endothelial development. The ANTXR2 (also known as CMG2) locus is on chromosome 4q21. ISH is a common disorder in children of consanguineo
PMID 26207694

Cathepsin-Mediated Alterations in TGFß-Related Signaling Underlie Disrupted Cartilage and Bone Maturation Associated With Impaired Lysosomal Targeting.

Flanagan-Steet H1, Aarnio M1, Kwan B1, Guihard P2, Petrey A1, Haskins M3, Blanchard F2, Steet R1.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.J Bone Miner Res.2015 Sep 25. doi: 10.1002/jbmr.2722. [Epub ahead of print]
Hypersecretion of acid hydrolases is a hallmark feature of mucolipidosis II (MLII), a lysosomal storage disease caused by loss of carbohydrate-dependent lysosomal targeting. Inappropriate extracellular action of these hydrolases is proposed to contribute to skeletal pathogenesis, but the mechanisms
PMID 26404503

Impaired myelination and reduced ferric iron in mucolipidosis IV brain.

Grishchuk Y1, Peña KA2, Coblentz J2, King VE3, Humphrey DM3, Wang SL3, Kiselyov KI2, Slaugenhaupt SA3.
Disease models & mechanisms.Dis Model Mech.2015 Sep 17. pii: dmm.021154. [Epub ahead of print]
Mucolipidosis type IV (MLIV) is a lysosomal storage disease caused by mutations in the MCOLN1 gene, which encodes the lysosomal transient receptor potential ion channel mucolipin-1 (TRPML1). MLIV causes impaired motor and cognitive development, progressive loss of vision and gastric achlorhydria. Ho
PMID 26398942

Japanese Journal

I-cell病(ムコリピドーシスII型)の1例

西村敏/永木茂/大和田操/大澤眞木子
東京女子医科大学雑誌 83(E1), E291-E295, 2013-01-31
I-cell病(ムコリピドーシスII型)は、ライソゾーム酵素の異常に基づく稀な先天代謝異常症で、常染色体劣性遺伝を示す。乳児期にムコ多糖症様の臨床症状、すなわち、特異な顔貌、多発性骨形成不全や精神運動発達遅滞などを呈するが、尿中ムコ多糖の排泄増加は認められない。浅黒い皮膚の色をしたムコ多糖症に比べ白色の皮膚をして、歯肉の著しい増殖が特徴である。リンパ球には空胞化が、繊維芽細胞には病名の由来となった …
NAID 110009559428

ムコリピドーシス3型患児の口腔内所見

小金澤大亮,安田順一,橋本岳英,片川吉尚,可知直剛,光吉平,玄景華
障害者歯科 32(3), 518, 2011-09-30
NAID 10030299956

Characterization of a mutation commonly associated with persistent stuttering : evidence for a founder mutation

Fedyna Alison,Drayna Dennis,Kang Changsoo
Journal of human genetics 56(1), 80-82, 2011-01-01
NAID 10030657544

Related Pictures

★リンクテーブル★

リンク元	「ムコリピドーシスIII型」「ムコリピドーシス」
拡張検索	「mucolipidosis type II」「mucolipidosis type IV」「mucolipidosis type I」「mucolipidosis type III」

「ムコリピドーシスIII型」

Mucolipidosis
Classification and external resources
Specialty	endocrinology
ICD-10	E77.0-E77.1
ICD-9-CM	272.7
MeSH	D009081
	[edit on Wikidata]

　　[★]

英: mucolipidosis type III、mucolipidosis III, mucolipidosis type 3
同: ムコ脂質症3型、ムコ脂質症III型、偽性ハーラー・ポリジストロフィー偽性Hurlerポリジストロフィー pseudo-Hurler polydystrophy、さくらんぼ赤色斑ミオクローヌス症候群 cherry red spot myoclonus syndrome
関: ムコリピドーシスムコリピド症 mucolipidosis、シアリドーシス sialidosis

英: cherry red spot myoclonus syndrome
関: I細胞病、ムコリピドーシス、シアリドーシス、ムコリピドーシスIV型、ムコ脂質症I型、ムコリピドーシスI型、ムコ脂質症II型、ムコリピドーシスII型、ムコ脂質症III型、ムコリピドーシスIII型、偽性ハーラー・・リジストロフィー、ムコリピド症

[show details]

ムコ脂質症III型 : 6 件
ムコ脂質症3型 : 1 件
ムコリピドーシスIII型 : 63 件
ムコリピドーシス3型 : 52 件

「ムコリピドーシス」

　　[★]

英: mucolipidosis
同: ムコ脂質症、ムコリピド症
関: [[]]

[show details]

ムコリピドーシス : 約 1,580 件
ムコ脂質症 : 99 件
ムコリピド症 : 約 22 件

「mucolipidosis type II」

　　[★]

ムコリピドーシスII型、ムコ脂質症II型

関: cherry red spot myoclonus syndrome、I-cell disease、mucolipidosis、mucolipidosis I、mucolipidosis II、mucolipidosis III、mucolipidosis IV、mucolipidosis type I、mucolipidosis type III、mucolipidosis type IV、pseudo-Hurler polydystrophy、sialidosis

「mucolipidosis type IV」

　　[★]

ムコリピドーシスIV型、ムコ脂質症IV型

関: cherry red spot myoclonus syndrome、I-cell disease、mucolipidosis、mucolipidosis I、mucolipidosis II、mucolipidosis III、mucolipidosis IV、mucolipidosis type I、mucolipidosis type II、mucolipidosis type III、pseudo-Hurler polydystrophy、sialidosis

「mucolipidosis type I」

　　[★]

ムコリピドーシスI型、ムコ脂質症I型

関: cherry red spot myoclonus syndrome、I-cell disease、mucolipidosis、mucolipidosis I、mucolipidosis II、mucolipidosis III、mucolipidosis IV、mucolipidosis type II、mucolipidosis type III、mucolipidosis type IV、pseudo-Hurler polydystrophy、sialidosis

「mucolipidosis type III」

　　[★] ムコリピドーシスIII型

[McMillanFeigin2006-1] Julia A. McMillan; Ralph D. Feigin; Catherine DeAngelis; M. Douglas Jones (1 April 2006). Oski's pediatrics: principles & practice. Lippincott Williams & Wilkins. pp. 1–. ISBN 978-0-7817-3894-1. Retrieved 3 November 2010.

[urlICD-10:-2] "ICD-10:". Retrieved 2010-11-03.

v t e (LSD) Inborn error of carbohydrate metabolism: glycoproteinosis (E77, 271.8)

Anabolism	Dolichol kinase deficiency Congenital disorder of glycosylation

Post-translational modification of lysosomal enzymes	Mucolipidosis: I-cell disease/II Pseudo-Hurler polydystrophy/III

Catabolism	Aspartylglucosaminuria Fucosidosis mannosidosis Alpha-mannosidosis Beta-mannosidosis Sialidosis Schindler disease

Other	solute carrier family (Salla disease) Galactosialidosis

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案内

案内

mucolipidosis