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Journal of Pediatric Biochemistry 2016; 06(01): 053-059
DOI: 10.1055/s-0036-1582223
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Neurological Findings in Anderson-Fabry Disease

Angela Nicoletti
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
,
Francesca Falvo
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
,
Maria Teresa Moricca
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
,
Mercuri Francesco Bruno
6   Department of Pediatrics, Pugliese Hospital, Catanzaro, Italy
,
Daniela Concolino
1   Department of Medical and Surgical Sciences, Pediatric Unit, University Magna Graecia of Catanzaro, Catanzaro, Italy
› Institutsangaben
Weitere Informationen

Publikationsverlauf

11. Dezember 2015

28. Januar 2016

Publikationsdatum:
26. April 2016 (online)

   Lizenzen und Reprints

Abstract

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene on chromosome Xq22, resulting in α-galactosidase A enzyme deficiency. It is characterized by progressive accumulation of lipids (e.g., globotriaosylceramide) in the lysosomes of a variety of cell types, including neural cells. Neurological manifestations, other than cerebrovascular accidents, include small fiber neuropathy and dysautonomic disorders. Small fiber peripheral neuropathy often is clinically manifested at young ages. Peripheral pain can be chronic and/or can occur as provoked attacks of excruciating pain. Manifestations of dysfunction of small autonomic fibers may include impaired sweating, gastrointestinal dysmotility, and abnormal pain perception. Patients with AFD often remain undiagnosed until the emergence of a more typical clinical manifestation, characterized by chronic renal and cardiac failure. Early clinical benefits of enzyme replacement therapy include reduction of neuropathic pain, and adequate management of residual pain to a tolerable and functional level, which can substantially improve the quality of these patients. Thus, it is important that physicians consider AFD in the differential diagnosis of neurological manifestations to provide an appropriate diagnostic and therapeutic workup.

Keywords

Fabry disease - neurological - α-galactosidase A - enzyme replacement therapy
 

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