Mucopolysaccharidosis 3.5/5 (2)

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14 year old boy with mucopolysaccharide type VI. Vairo F, - Appl Clin Genet (2015). CC BY-NC 3.0

Definition

Mucopolysaccharide is a group storage diseases which are characterized by absence or too low activity in lysosomal enzymes in the cytoplasm of the cells. Thus, glycosaminoglycans (synonym: mucopolysaccharides) do not break down. Accumulation of glycosaminoglycans in the cells causes damage to the skeleton, cartilage, tendons, nervous system, eyes (cornea), skin and connective tissue generally in the body. The diseases are genetic (hereditary) caused and separated autoimmune connective tissue disease. The course of the disease is different between the different types.

Symptoms

The different types of mucopolysaccharidosis have similar symptoms, but to different degrees

  • Gradual development over the first years of life
  • Facial features
    • Make neserygg
    • Thick lips
    • Big mouth and tongue
  • Short upper body
  • Thickened skin
  • Big belly
  • Increased hair growth on the body

Investigational Findings

  • Enlarged liver and spleen
  • Urine tests
    • Increased amount of polysaccharids
  • Enzyme essay tests in blood (age-dependent reference areas)
  • Prenatal fetus diagnosis is possible

Various types of mucopolysaccharidosis (MPS Type I - IX)

MPS Type I includes Hurler, Hurler-Scheie og Scheie syndrome

MPS Type II, (Hunters syndrome)

MPS Type III, (Sanfilippo syndrome), divided into type A-D

MPS Type IV, (Morquio syndrome)

MPS Type V, corresponds to Type I in the form of Scheie syndrome

MPS Type VI, (Maroteaux-Lamy syndrome)

MPS Type VII, (Sly syndrome)

(MPS, Type VIII is taken out of classification because it is covered by the other types)

MPS, Type IX, (Hyaluronidase deficiency)

Wrong diagnosis / Differential diagnoses

Literature

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