Mucopolysaccharidoses hereditary (overview) E76.2

Group of rare, autosomal recessive inherited (except mucopolysaccharidosis II = Hunter syndrome with X-linked recessive inheritance), lysosomal storage diseases (see also sphingolipidoses), which are caused by deficiencies of various lysosomal enzymes. The consequences are non-degradable deposition of mucopolysaccharides in tissues and cells and excretion of large amounts of mucopolysaccharides in urine.

• MPS IH: Pfaundler-Hurler disease.
• MPS IS: Scheie disease.
• MPS IH/S: Scheie-Hurler Disease.
• MPS II: M. Hunter.
• MPS III: Sanfilippo's Disease.
• MPS IV: M. Morquio.
• MPS V: Not defined.
• MPS VI: M. Maroteaux-Lamy.
• MPS VII: Sly Disease.

Integument: Skin phenomena are completely in the background of the clinical symptoms. The skin appears thickened and scleroderma-like. There are ivory-coloured, possibly confluent nodules or symmetrical groins between the angles of the scapulae and in the area of the posterior axillary fold. Absence of hair in the area of mons pubis and axillae possible.

• More frequent: hypertrichosis.
• Rarely: occasionally described is the combination with a large mongol stain.

Also: skeletal changes, clouding of the cornea, hepatosplenomegaly, vascular changes.

• Prenatal by amniocentesis.
• Postpartum: Determination of mucopolysaccharides in urine, detection of the storage of mucopolysaccharides in blood cells as a screening test, enzyme determinations in fibroblasts, leucocytes or serum.

1. Gupta A et al (2015) Hunter syndrome with late age of presentation: clinical description of a case and review of the literature. BMJ Case Rep doi: 10.1136/bcr-2015-209305.
2. Fenzl CR et al (2015) Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses. Clin Ophthalmol 9:1633-1644.
3. James RA et al.(2016) Australian Paediatric Rheumatology Group. Lysosomal storage disorders: A review of the musculoskeletal features. J Paediatric Child Health 52:262-271.
4. Kampmann C et al.(2016) Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses. JIMD RepPMID: 27450368.
5. Peck SH et al (2016) Pathogenesis and treatment of spine disease in the mucopolysaccharidoses. Mol Genet Metab 118:232-243.
6. Tran MC et al (2016) Cutaneous Manifestations of Mucopolysaccharidosis. Pediatr Dermatol doi: 10.1111/pde.12971.