title: Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).
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.
authors.affiliation: Prince Court Medical Center, 39 Jalan Kia Peng, 50450 Kuala Lumpur, Wilayah Persekutuan Kuala Lumpur, Malaysia.
authors.forename: Yew Sing
authors.initials: YS
authors.lastname: Choy
authors.affiliation: Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Hawkesbury Rd & Hainsworth St, Westmead, Sydney, NSW, Australia.
authors.forename: Kaustuv
authors.initials: K
authors.lastname: Bhattacharya
authors.affiliation: Princess Margaret Children's Hospital, Roberts Rd, Subiaco, WA 6008, Australia.
authors.forename: Shanti
authors.initials: S
authors.lastname: Balasubramaniam
authors.affiliation: SA Pathology (at Women's and Children's Hospital), 72 King William Rd, North Adelaide, SA 5006, Australia.
authors.forename: Michael
authors.initials: M
authors.lastname: Fietz
authors.affiliation: Prince of Wales Hospital, 30-32 Ngan Shing Street, Sha Tin, NT, Hong Kong.
authors.forename: Antony
authors.initials: A
authors.lastname: Fu
authors.affiliation: Department of Metabolic Medicine, Lady Cilento Children's Hospital, 501 Stanley Street, South Brisbane, QLD 4101, Australia.
authors.forename: Anita
authors.initials: A
authors.lastname: Inwood
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Irwon-Dong, Gangnam-Gu, Seoul, South Korea.
authors.forename: Dong-Kyu
authors.initials: DK
authors.lastname: Jin
authors.affiliation: Department of Radiology, Woorisoa Children's Hospital, Guro-gu, Seoul 152-862, South Korea.
authors.forename: Ok-Hwa
authors.initials: OH
authors.lastname: Kim
authors.affiliation: National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.
authors.forename: Motomichi
authors.initials: M
authors.lastname: Kosuga
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Irwon-Dong, Gangnam-Gu, Seoul, South Korea.
authors.forename: Young Hee
authors.initials: YH
authors.lastname: Kwun
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, No. 92, Sec. 2, Zhongshan N. Road, Taipei 10449, Taiwan.
authors.forename: Hsiang-Yu
authors.initials: HY
authors.lastname: Lin
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, No. 92, Sec. 2, Zhongshan N. Road, Taipei 10449, Taiwan.
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.affiliation: Children's Hospitals & Clinics of Minnesota, 2525 Chicago Ave, Minneapolis, MN, USA.
authors.forename: Nancy J
authors.initials: NJ
authors.lastname: Mendelsohn
authors.affiliation: National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.
authors.forename: Torayuki
authors.initials: T
authors.lastname: Okuyama
authors.affiliation: National Heart Institute, 145 Jalan Tun Razak, 50586 Kuala Lumpur, Wilayah Persekutuan Kuala Lumpur, Malaysia.
authors.forename: Hasri
authors.initials: H
authors.lastname: Samion
authors.affiliation: Ipoh Specialist Hospital, Ipoh, Perak, Malaysia.
authors.forename: Adeline
authors.initials: A
authors.lastname: Tan
authors.affiliation: Osaka City University Graduate School of Medicine, 1-4-3 Asahimachi, Abeno-ku, Osaka 545-8585, Japan.
authors.forename: Akemi
authors.initials: A
authors.lastname: Tanaka
authors.affiliation: Queen Sirikit National Institute of Child Health, 420/8, Ratchawithi Road, Thung Phaya Thai, Khet Ratchathewi, Bangkok 10400, Thailand.
authors.forename: Verasak
authors.initials: V
authors.lastname: Thamkunanon
authors.affiliation: Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.
authors.forename: Meow-Keong
authors.initials: MK
authors.lastname: Thong
authors.affiliation: Department of Paediatrics and Clinical Research Centre, Sibu Hospital, KM 5 ½, Jalan Ulu Oya, Sibu, Sarawak, Malaysia.
authors.forename: Teck-Hock
authors.initials: TH
authors.lastname: Toh
authors.affiliation: Changhua Christian Hospital, 135 Nanxiao St., Changhua City, Changhua County 526, Taiwan.
authors.forename: Albert D
authors.initials: AD
authors.lastname: Yang
authors.affiliation: Department of Metabolic Medicine, Lady Cilento Children's Hospital, 501 Stanley Street, South Brisbane, QLD 4101, Australia.
authors.forename: Jim
authors.initials: J
authors.lastname: McGill
mesh_terms: D001208:Asia; D001842:Bone and Bones / Q000000981:diagnostic imaging; D001921:Brain / Q000000981:diagnostic imaging; D057210:Delayed Diagnosis / Q000517:prevention & control; D003937:Diagnosis, Differential; D003951:Diagnostic Errors / Q000517:prevention & control; D005260:Female; D006282:Health Personnel / Q000193:education; D006801:Humans; D008297:Male; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis*; D019601:Pacific States; D011859:Radiography; D012017:Referral and Consultation
keywords: Asia; Diagnosis; MPS VI; Mucopolysaccharidosis; Pacific; Symptoms