Clinical and laboratorial study of 19 cases of mucopolysaccharidoses

Revista do Hospital das Clínicas
L M AlbanoA K Chong

Abstract

The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in 19 cases. Not all patients showed increased GAG levels in urine; enzyme assays should be performed in all cases with strong clinical suspicion. The diagnosis was made on average at the age of 48 months, and the 19 MPS cases, after a full clinical, radiological, and biochemical study, were classified as follows: Hurler - MPS I (1 case); Hunter - MPS II (2 cases); Sanfilippo - MPS III (2 cases); Morquio - MPS IV (4 cases); Maroteaux-Lamy - MPS VI (9 cases); and Sly - MPS VII (1 case). The high relative frequency of Maroteaux-Lamy disease contrasts with most reports in the literature and could express a population variability.

References

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Citations

May 31, 2014·Clinica Chimica Acta; International Journal of Clinical Chemistry·Dimitry A ChistiakovAlexander A Baranov
Aug 17, 2014·Molecular Genetics and Metabolism·Olaf A BodamerTim Wood
Aug 5, 2016·AJR. American Journal of Roentgenology·Sarah J MenasheA Luana Stanescu
Jun 4, 2011·Genetics and Molecular Biology·Roberto GiuglianiAna Maria Martins
May 4, 2018·Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry·Moema Ferreira Dos ReisLuiz Carlos Santana da Silva
Sep 9, 2017·American Journal of Medical Genetics. Part a·Mustafa KılıçHatice-Serap Sivri
Dec 18, 2012·European Journal of Anaesthesiology·Rikke M NielsenKarsten S Olsen
Sep 8, 2016·Pediatric Dermatology·Mimi C Tran, Joseph M Lam

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