The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review

Francesca Falvo; Simona Sestito; Angela Nicoletti; Michele Grisolia; Italia Mascaro; Elisa Pascale; Vincenzo Salpietro; Agata Polizzi; Martino Ruggieri; Daniela Concolino

doi:10.1055/s-0036-1582252

Journal of Pediatric Biochemistry, Table of Contents

Journal of Pediatric Biochemistry 2016; 06(01): 046-052
DOI: 10.1055/s-0036-1582252

Review Article

Georg Thieme Verlag KG Stuttgart · New York

The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review

Authors

Francesca Falvo

¹Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
Simona Sestito

¹Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
Angela Nicoletti

¹Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
Michele Grisolia

¹Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
Italia Mascaro

¹Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
Elisa Pascale

¹Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
Vincenzo Salpietro

²Department of Pediatrics, University of Messina, Messina, Italy

³Institute of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals, London, United Kingdom
Agata Polizzi

⁴National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
Martino Ruggieri

⁵Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
Daniela Concolino

¹Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy

Abstract

The mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage disorders caused by deficiency of enzymes catalyzing the stepwise degradation of glycosaminoglycans dermatan sulfate, heparan sulfate, keratan sulfate, chondroitin sulfate, and hyaluronic acid. There are seven groups of MPS, which are MPS-I (MPS-I-H or Hurler syndrome; MPS-I-S or Scheie syndrome; and MPS-I-HS or Hurler–Scheie syndrome), MPS-II (Hunter syndrome), MPS-III (Sanfilippo syndrome types A to D), MPS-IV (Morquio syndrome types A and B), MPS-VI (Maroteaux–Lamy syndrome), MPS-VII (Sly syndrome), and MPS-IX (Natowicz syndrome). All are inherited as autosomal recessive diseases, with the exception of Hunter syndrome, which follows an X-linked recessive inheritance pattern. The MPSs affect multiple organ systems (including bone, heart, and visceral organs), leading to organ failure. Involvement of central nervous system occurs only in the forms with heparan sulfate accumulation, that is, MPS-I, MPS-II, MPS-III, and MPS-VII. Therapy is available for MPS-I, MPS-II, MPS-IV, and MPS-VI. This review provides a case-based overview of the different forms of MPS with neurological involvement.

Keywords

mucopolysaccharidosis - glycosaminoglycans - heparan sulfate - lysosomal storage disorders - neurological - central nervous system

Full Text

References

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