Affiliations 

  • 1 Prince Court Medical Center, 39 Jalan Kia Peng, 50450 Kuala Lumpur, Wilayah Persekutuan Kuala Lumpur, Malaysia
  • 2 Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Hawkesbury Rd & Hainsworth St, Westmead, Sydney, NSW, Australia
  • 3 Princess Margaret Children's Hospital, Roberts Rd, Subiaco, WA 6008, Australia
  • 4 SA Pathology (at Women's and Children's Hospital), 72 King William Rd, North Adelaide, SA 5006, Australia
  • 5 Prince of Wales Hospital, 30-32 Ngan Shing Street, Sha Tin, NT, Hong Kong
  • 6 Department of Metabolic Medicine, Lady Cilento Children's Hospital, 501 Stanley Street, South Brisbane, QLD 4101, Australia
  • 7 Department of Pediatrics, Samsung Medical Center, Irwon-Dong, Gangnam-Gu, Seoul, South Korea
  • 8 Department of Radiology, Woorisoa Children's Hospital, Guro-gu, Seoul 152-862, South Korea
  • 9 National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan
  • 10 Department of Pediatrics, Mackay Memorial Hospital, No. 92, Sec. 2, Zhongshan N. Road, Taipei 10449, Taiwan
  • 11 Children's Hospitals & Clinics of Minnesota, 2525 Chicago Ave, Minneapolis, MN, USA
  • 12 National Heart Institute, 145 Jalan Tun Razak, 50586 Kuala Lumpur, Wilayah Persekutuan Kuala Lumpur, Malaysia
  • 13 Ipoh Specialist Hospital, Ipoh, Perak, Malaysia
  • 14 Osaka City University Graduate School of Medicine, 1-4-3 Asahimachi, Abeno-ku, Osaka 545-8585, Japan
  • 15 Queen Sirikit National Institute of Child Health, 420/8, Ratchawithi Road, Thung Phaya Thai, Khet Ratchathewi, Bangkok 10400, Thailand
  • 16 Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia
  • 17 Department of Paediatrics and Clinical Research Centre, Sibu Hospital, KM 5 ½, Jalan Ulu Oya, Sibu, Sarawak, Malaysia
  • 18 Changhua Christian Hospital, 135 Nanxiao St., Changhua City, Changhua County 526, Taiwan
Mol Genet Metab, 2015 May;115(1):41-7.
PMID: 25892708 DOI: 10.1016/j.ymgme.2015.03.005

Abstract

Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome) is caused by deficient activity of the enzyme, N-acetylgalactosamine-4-sulfatase, resulting in impaired degradation of the glycosaminoglycan dermatan sulfate. Patients experience a range of manifestations including joint contractures, short stature, dysostosis multiplex, coarse facial features, decreased pulmonary function, cardiac abnormalities, corneal clouding and shortened life span. Recently, clinicians from institutions in the Asia-Pacific region met to discuss the occurrence and implications of delayed diagnosis and misdiagnosis of MPS VI in the patients they have managed. Eighteen patients (44% female) were diagnosed. The most common sign presented by the patients was bone deformities in 11 patients (65%). Delays to diagnosis occurred due to the lack of or distance to diagnostic facilities for four patients (31%), alternative diagnoses for two patients (15%), and misleading symptoms experienced by two patients (15%). Several patients experienced manifestations that were subtler than would be expected and were subsequently overlooked. Several cases highlighted the unique challenges associated with diagnosing MPS VI from the perspective of different specialties and provide insights into how these patients initially present, which may help to elucidate strategies to improve the diagnosis of MPS VI.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.