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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

Francesca Falvo
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Simona Sestito
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Angela Nicoletti
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Michele Grisolia
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Italia Mascaro
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Elisa Pascale
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Vincenzo Salpietro
2   Department of Pediatrics, University of Messina, Messina, Italy
3   Institute of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals, London, United Kingdom
,
Agata Polizzi
4   National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
,
Martino Ruggieri
5   Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Daniela Concolino
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
› Author Affiliations
Further Information

Publication History

16 December 2015

24 January 2016

Publication Date:
26 April 2016 (online)

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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
 

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