Maroteaux-lamy, m.E76.2

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

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HistoryThis section has been translated automatically.

Maroteaux and Lamy, 1966

DefinitionThis section has been translated automatically.

Hereditary mucopolysaccharidosis with growth disturbance, bone dysplasia, joint contractures, corneal clouding, hepatomegaly, mucopolysacchariduria.

Occurrence/EpidemiologyThis section has been translated automatically.

Panethnic; no sex preference. Incidence (M. Maroteaux-Lamy): 1/ > 200,000 inhabitants/year.

EtiopathogenesisThis section has been translated automatically.

Genetically caused defect of the enzyme N-acetylgalactosamine-4-sulfate sulfatase (arylsulfatase B), which is mapped on the gene locus 5q11-q13 and leads to lysosomal storage of dermatan sulfate in all internal organs and the skin

ManifestationThis section has been translated automatically.

2 to 3 years of age.

Clinical featuresThis section has been translated automatically.

  • Integument: Generalized, yellowish-whitish, hard, caked plates, usually from birth. Followed by atrophy and sclerosis of the skin and skin appendages. Often hyperhidrosis or hypertrichosis.
  • Extracutaneous manifestations: Multiple bone growth disorders (dysostosis multiplex), dwarfism, corneal opacity, obstructive respiratory diseases, congenital heart defects.

LiteratureThis section has been translated automatically.

  1. Akhtar S et al (2002) Clinical and morphological features including expression of betaig-h3 and keratan sulphate proteoglycans in Maroteaux-Lamy syndrome type B and in normal cornea. Br J Ophthalmol 86: 147-151
  2. Crawley AC (1998) Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes. J Clin Invest 101: 109-119
  3. Litjens T et al (2001) Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. Hum Mutate 18: 282-295
  4. Maroteaux P, Lamy M (1966) La pseudo-polydystrophy de Hurler. La presse médicale (Paris) 74: 2889-2892
  5. Tobacman JK (2003) Does deficiency of arylsulfatase B have a role in cystic fibrosis? Chest 123: 2130-2139

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer