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Molecular Basis, Diagnosis and Clinical Management of Mucopolysaccharidoses

Rossella Parini
Francesca Bertola
2 and
Pierluigi Russo
UOS Malattie Metaboliche Rare, Department of Pediatrics, Fondazione MBBM, Azienda Ospedaliera San Gerardo, University of Milano-Bicocca, Milan, Italy
Consortium for Human Molecular Genetics, University of Milano-Bicocca, Milan, Italy
UO Department of Cardiology, Azienda Ospedaliera San Gerardo, Monza, Italy
Author to whom correspondence should be addressed.
Cardiogenetics 2013, 3(s1), e2;
Submission received: 22 October 2012 / Accepted: 22 October 2012 / Published: 27 February 2013


Mucopolysaccharidoses (MPSs) are a group of hereditary, monogenic disorders caused by lysosomal storage of glycosaminoglycans. Their incidence as a group is between 1:25,000 and 1:45,000. At present 11 different enzyme deficiencies are know to be responsible of 7 similar but distinct diseases. The diagnosis is suspected clinically but must be confirmed through biochemical, enzymatic and molecular analysis. Prenatal diagnosis is feasible for each disease. The phenotype worsens with age, due to progressive storage, and mainly involves mucosal tissue, upper airways and lungs, bones and joints, central and peripheral nervous system, heart, liver, eye and ear. Any type of MPSs, is characterized by a wide variability of phenotype ranging from a severe fetal-neonatal disease to an attenuated form diagnosed in adult individuals. Recently new treatments, like hematopoietic stem cell transplantation and enzymatic replacement therapy, became available for many of these disorders entailing the urgency of early diagnosis to allow access to therapies. Thanks to therapies these patients have a longer life than in the past and this implies that also palliative treatments, of which the cardiological ones have a prominent part, must be undertaken diligently. The cardiologist may face, more frequently than expected, with the need to diagnose a patient with MPS who was not recognized by other specialists. The echocardiographic features of these patients are typical and may help in the clinical diagnosis. The future probably deserves to these disorders other new treatments or combination therapies, which might further improve prognosis of these diseases.
Keywords: mucopolysaccharidoses (MPS); heart; heart and MPS; genetics and MPS mucopolysaccharidoses (MPS); heart; heart and MPS; genetics and MPS

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MDPI and ACS Style

Parini, R.; Bertola, F.; Russo, P. Molecular Basis, Diagnosis and Clinical Management of Mucopolysaccharidoses. Cardiogenetics 2013, 3, e2.

AMA Style

Parini R, Bertola F, Russo P. Molecular Basis, Diagnosis and Clinical Management of Mucopolysaccharidoses. Cardiogenetics. 2013; 3(s1):e2.

Chicago/Turabian Style

Parini, Rossella, Francesca Bertola, and Pierluigi Russo. 2013. "Molecular Basis, Diagnosis and Clinical Management of Mucopolysaccharidoses" Cardiogenetics 3, no. s1: e2.

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