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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/05/20 13:18:00」(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 [edit]

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 [edit]

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 [edit]

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

References [edit]

^ ^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：分類 inborn errors of metabolism classification
4. 遺伝性運動失調の概要 overview of the hereditary ataxias
5. 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

English Journal

Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.

Kubaski F1, Suzuki Y2, Orii K3, Giugliani R4, Church HJ5, Mason RW6, Dũng VC7, Ngoc CT7, Yamaguchi S8, Kobayashi H8, Girisha KM9, Fukao T3, Orii T3, Tomatsu S10.
Molecular genetics and metabolism.Mol Genet Metab.2016 Dec 22. pii: S1096-7192(16)30404-8. doi: 10.1016/j.ymgme.2016.12.010. [Epub ahead of print]
Mucopolysaccharidoses (MPSs) and mucolipidoses (ML) are groups of lysosomal storage disorders in which lysosomal hydrolases are deficient leading to accumulation of undegraded glycosaminoglycans (GAGs), throughout the body, subsequently resulting in progressive damage to multiple tissues and organs.
PMID 28065440

Microvillus inclusion disease: a subtotal enterectomy as a bridge to transplantation.

van Hoeve K1, Hoffman I1, Fusaro F2, Pirenne J3, Vander Auwera A4, Dieltjens AM4, De Hertogh G5, Monbaliu D3, Miserez M6.
Acta chirurgica Belgica.Acta Chir Belg.2016 Dec;116(6):333-339. doi: 10.1080/00015458.2016.1176420. Epub 2016 Aug 1.
BACKGROUND: Microvillus inclusion disease (MVID) is a known congenital cause of intractable diarrhea resulting in permanent intestinal failure. There is need for a lifelong total parenteral nutrition (TPN) from diagnosis and the prognosis is poor. Most patients die by the second decade of life as a
PMID 27477384

Early characteristic radiographic changes in mucolipidosis II.

Lai LM1, Lachman RS2,3.
Pediatric radiology.Pediatr Radiol.2016 Nov;46(12):1713-1720. Epub 2016 Aug 15.
BACKGROUND: Although mucolipidosis type II has similar metabolic abnormalities to those found in all the mucopolysaccharidoses and mucolipidoses, there are distinctive diagnostic radiographic changes of mucolipidosis II in the perinatal/newborn/infant period.OBJECTIVE: To describe the early characte
PMID 27525427