Maroteaux-Lamy Syndrome

Mucopolysaccharidosis VI (MPSVI) or Maroteaux-Lamy syndrome is a lysosomal storage disorder with a wide spectrum of features ranging from a severe, rapidly progressing form to a relatively mild, slowly progressing form. Symptoms can include short stature, skeletal deformities, stiff and contracted joints, hepatosplenomegaly, coarse facial features, respiratory difficulties, hearing loss, corneal clouding, and cardiac abnormalities. Neurological development is generally normal. The rapidly progressing form is characterized by onset before 2 or 3 years, impaired mobility by 10 years, delayed puberty, an adult height less than 120 cm, cervical spinal cord compression, respiratory insufficiency, surgical complications and frequently death in the 2nd or 3rd decade due to heart failure. The slowly progressing form is characterized by later onset of symptoms with a diagnosis being made after 5 years of age; however, some patients are not diagnosed until the 2nd or 3rd decades. These patients may also develop skeletal complications including carpal tunnel syndrome, joint disease and a decrease in their overall functional status, and most will develop more serious complications of MPSVI at some point including joint degeneration, cardiac valve disease, sleep apnea, decreases in pulmonary function and reduced endurance. Birth prevalence estimates for MPS VI range from 0.5 to 4.3 per million live births, with the exception of a very high rate in Turkish immigrants in Germany (2.3 per 105 live births).

Tests Available

Forms and Documents

Test Details

ARSB
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

565
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 330.1 Tay-Sachs disease hexosaminidase A deficiency; Cerebral lipidoses
* For price inquiries please email zebras@genedx.com

References

  1. Petry et al., (2005) J Inherit Metab Dis 28:1027-1034.
  2. Arlt et al., (1994) J Biol Chem 269:9638-9643.
  3. Villani et al., (2010) Genet Test Mol Biomarkers 14:113-120.
  4. Garrido et al., (2007) Mol Genet Metab 92:122-130.
  5. Karageorgos et al., (2007) Hum Mutat 28:897-903.
  6. Valayannopoulos et al., (2010) Orphanet J Rare Dis 5:5. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - November 2011 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf