Mucolipidosis

Mucolipidosis
Mucolipidosis
Classification and external resources
ICD-10 E77.0-E77.1
ICD-9 272.7
MeSH D009081

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]

Contents

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.

See also

References

  1. ^ 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 9780781738941. http://books.google.com/books?id=VbjFQiz8aR0C&pg=RA1-PA2211. Retrieved 3 November 2010. 
  2. ^ "ICD-10:". http://apps.who.int/classifications/apps/icd/icd10online/?ge70.htm+e751. Retrieved 2010-11-03. 
v · d · e(LSD) Inborn error of carbohydrate metabolism: glycoproteinosis (E77, 271.8)
Anabolism
Post-translational modification
of lysosomal enzymes
Catabolism
Other

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

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Look at other dictionaries:

  • mucolipidosis — trastornos metabólicos caracterizados por una acumulación de mucopolisacáridos y lípidos en los tejidos, pero sin un exceso de mucopolisacáridos en la orina. Las mucolipidosis incluyen la enfermedad de células con inclusiones (mucolipidosis II)… …   Diccionario médico

  • mucolipidosis IV — un desorden metabólico bastante raro que se cree se debe a una deficiencia del trasporte de la proteína que constituye el canal de algunos receptores. En consecuencia, se produce la acumulación de ciertos mucolípidos y complejos mucopolisacáridos …   Diccionario médico

  • mucolipidosis II — Véase enfermedad de células con inclusiones. Diccionario Mosby Medicina, Enfermería y Ciencias de la Salud, Ediciones Hancourt, S.A. 1999 …   Diccionario médico

  • mucolipidosis II — alpha/beta a rapidly progressing disease of young children, characterized histologically by abnormal fibroblasts containing a large number of dark inclusions which fill the central part of the cytoplasm except for the juxtanuclear zone (I cells) …   Medical dictionary

  • Mucolipidosis type IV — Classification and external resources ICD 10 E75.1 OMIM 252650 DiseasesDB …   Wikipedia

  • mucolipidosis IIIA — mucolipidosis III alpha/beta an autososmal recessive disorder due to mutation in the same gene as in mucolipidosis II alpha/beta; more residual enzyme activity remains and the clinical characteristics are milder. Called also pseudo Hurler… …   Medical dictionary

  • mucolipidosis IIIC — mucolipidosis III gamma a rare variant form of mucolipidosis; it is an autososmal recessive disorder due to mutation in the GNPTG gene (locus: 16p), which encodes the gamma subunit of UDP N acetylglucosamine–lysosomal enzyme N acetylglucosamine …   Medical dictionary

  • mucolipidosis III — a term usually used to denote mucolipidosis III alpha/beta; it can be used to include mucolipidosis III gamma …   Medical dictionary

  • mucolipidosis tipo I — Eng. Type I mucolipidosis Ver síndrome de Spranger …   Diccionario de oftalmología

  • mucolipidosis tipo II — Eng. Type II mucolipidosis Ver enfermedad de las células de inclusión …   Diccionario de oftalmología

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