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Title: Diagnosing mucopolysaccharidosis IVA
Authors: Wood, Timothy C.
Harvey, Katie
Beck, Michael
Burin, Maira Graeff
Chien, Yin-Hsiu
Church, Heather J.
D'Almeida, Vânia [UNIFESP]
van Diggelen, Otto P.
Fietz, Michael
Giugliani, Roberto
Harmatz, Paul
Hawley, Sara M.
Hwu, Wuh-Liang
Ketteridge, David
Lukacs, Zoltan
Miller, Nicole
Pasquali, Marzia
Schenone, Andrea
Thompson, Jerry N.
Tylee, Karen
Yu, Chunli
Hendriksz, Christian J.
Greenwood Genet Ctr
Great Ormond St Hosp Sick Children
Johannes Gutenberg Univ Mainz
Hosp Clin Porto Alegre
Natl Taiwan Univ Hosp
St Marys Hosp
Universidade Federal de São Paulo (UNIFESP)
Erasmus Univ
SA Pathol
Univ Fed Rio Grande do Sul
Childrens Hosp Oakland
BioMarin Pharmaceut Inc
Dept Pediat
Inst Clin Chem
Univ Utah
Fdn Estudio Enfermedades Neurometab FESEN
Univ Alabama Birmingham
Mt Sinai Sch Med
Univ Manchester
Salford Royal NHS Fdn Trust
Issue Date: 1-Mar-2013
Publisher: Springer
Citation: Journal of Inherited Metabolic Disease. Dordrecht: Springer, v. 36, n. 2, p. 293-307, 2013.
Abstract: Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findings. A group of biochemical genetics laboratory directors and clinicians involved in the diagnosis of MPS IVA, convened by BioMarin Pharmaceutical Inc., met to develop recommendations for diagnosis. the following conclusions were reached. Due to the wide variation and subtleties of radiographic findings, imaging of multiple body regions is recommended. Urinary glycosaminoglycan analysis is particularly problematic for MPS IVA and it is strongly recommended to proceed to enzyme activity testing even if urine appears normal when there is clinical suspicion of MPS IVA. Enzyme activity testing of GALNS is essential in diagnosing MPS IVA. Additional analyses to confirm sample integrity and rule out MPS IVB, multiple sulfatase deficiency, and mucolipidoses types II/III are critical as part of enzyme activity testing. Leukocytes or cultured dermal fibroblasts are strongly recommended for enzyme activity testing to confirm screening results. Molecular testing may also be used to confirm the diagnosis in many patients. However, two known or probable causative mutations may not be identified in all cases of MPS IVA. A diagnostic testing algorithm is presented which attempts to streamline this complex testing process.
ISSN: 0141-8955
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