Maroteaux-Lamy Syndrome

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Classification according to ICD-10
E76.2 Other mucopolysaccharidoses - Maroteaux-Lamy disease (mild) (severe)
ICD-10 online (WHO version 2019)

The Maroteaux-Lamy syndrome indicates a congenital to the metabolic disorders associated lysosomal storage disease , it comes in a storage dermatin.

Synonyms are: mucopolysaccharidosis type VI ; MPS6; MPSVI; Aryl sulfatase B deficiency; ARSB deficiency; ASB deficiency; N-acetylgalactosamine 4-sulfatase deficiency; Maroteaux-Lamy disease

It was first described in 1963 by the Parisian pediatricians and human geneticists Pierre Maroteaux (* 1926) and Maurice Lamy (1895–1975).

The disease should not be confused with hereditary idiopathic osteolysis type I Lamy-Maroteaux .

distribution

The frequency is given as 1 - 9 in 100,000, inheritance is autosomal - recessive .

root cause

The disease is based on mutations in the ARSB gene at gene location 5q13-5q14.1, which reduces the activity of aryl sulfatase B (ASB, N-acetylgalactosamine-4-sulfatase) and thereby impairs the breakdown of dermatan sulfate and chondroitin sulfate.

Clinical manifestations

Clinical criteria are:

Skeletal dysplasia as in dysostosis multiplex.

The clinical picture is variable, there are slow and fast courses

Indications of a rapid course are symptoms already at birth, greatly increased glycosaminoglycan (GAG) in the urine, severe dysostosis multiplex and short stature. If the course is slower, the symptoms begin later, the GAG ​​is only slightly increased and the dysostosis multiplex is mild.

diagnosis

The diagnosis is based on the typical clinical picture, a significantly reduced ASB activity in cultured fibroblasts or leukocytes and normal activity of another sulfatase. Increased dermatan sulfate can be detected in the urine.

Differential diagnosis

To be differentiated are: multiple sulfatase deficiency , other forms of mucopolysaccharidosis (type 1, type 2, type 4A, type 7), sialidosis and mucolipidosis .

therapy

The treatment is carried out by enzyme replacement therapy with galsulfase

Prospect of healing

The prognosis depends on the age at clinical manifestation, the speed of progression and the start of drug treatment.

Diseases in animals

Type VI mucopolysaccharidosis occurs very rarely in dogs. More commonly affected breeds are the Miniature Pinscher , Miniature Schnauzer , Chesapeake Bay Retriever, and Welsh Corgis .

literature

  • JL Suarez-Guerrero, PJ Gómez Higuera, JS Arias Flórez, GA Contreras-García: Mucopolisacaridosis: características clínicas, diagnóstico y de manejo. In: Revista chilena de pediatria. [Electronic publication before printing] November 2015, doi: 10.1016 / j.rchipe.2015.10.004 , PMID 26613630 .
  • F. Vairo, A. Federhen, G. Baldo, M. Riegel, M. Burin, S. Leistner-Segal, R. Giugliani: Diagnostic and treatment strategies in mucopolysaccharidosis VI. In: The application of clinical genetics. Vol. 8, 2015, pp. 245-255, doi: 10.2147 / TACG.S68650 , PMID 26586959 , PMC 4634832 (free full text) (review).

Individual evidence

  1. ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ a b c Mucopolysaccharidosis type 6. In: Orphanet (database for rare diseases).
  3. ↑ Who named it
  4. ↑ P. Maroteaux, B. Leveque, J. Marie, M. Lamy: Une nouvelle dysostose avec elimination urinaire de chondroitine sulfate B. In: La Presse meédicale. Vol. 71, September 1963, pp. 1849-1852, PMID 14091597 .
  5. ↑ Mucopolysaccharidosis type VI (Maroteaux-Lamy).  In: Online Mendelian Inheritance in Man . (English)
  6. ^ Margret L. Casal: Hereditary diseases. In: Peter S. Suter and Barbara Kohn: Internship at the dog clinic. 10th edition, Paul Parey, Stuttgart 2006, ISBN 978-3-8304-4141-0 , p. 194.