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Diagnostics 2018, 8(2), 29; https://doi.org/10.3390/diagnostics8020029

Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder

1
Department of Laboratory Medicine and Pathology (5B4.09), University of Alberta, 8440 112 St NW, Edmonton, AB T6G 2B7, Canada
2
Department of Pediatrics, Stollery Children’s Hospital, University of Alberta Hospital, Edmonton, AB T6G 2B7, Canada
*
Author to whom correspondence should be addressed.
Received: 23 February 2018 / Revised: 22 April 2018 / Accepted: 22 April 2018 / Published: 25 April 2018
(This article belongs to the Special Issue Diagnosis and Management of Pediatric Diseases)
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Abstract

Sialidosis (MIM 256550) is a rare, autosomal recessive inherited disorder, caused by α-N-acetyl neuraminidase deficiency resulting from a mutation in the neuraminidase gene (NEU1), located on 6p21.33. This genetic alteration leads to abnormal intracellular accumulation as well as urinary excretion of sialyloligosaccharides. A definitive diagnosis is made after the identification of a mutation in the NEU1 gene. So far, 40 mutations of NEU1 have been reported. An association exists between the impact of the individual mutations and the severity of clinical presentation of sialidosis. According to the clinical symptoms, sialidosis has been divided into two subtypes with different ages of onset and severity, including sialidosis type I (normomorphic or mild form) and sialidosis type II (dysmorphic or severe form). Sialidosis II is further subdivided into (i) congenital; (ii) infantile; and (iii) juvenile. Despite being uncommon, sialidosis has enormous clinical relevance due to its debilitating character. A complete understanding of the underlying pathology remains a challenge, which in turn limits the development of effective therapeutic strategies. Furthermore, in the last few years, some atypical cases of sialidosis have been reported as well. We herein attempt to combine and discuss the underlying molecular biology, the clinical features, and the morphological patterns of sialidosis type I and II. View Full-Text
Keywords: sialidosis; neuraminidase; sialidosis I; sialidosis II; lysosomal storage disease; lysosomal exocytosis sialidosis; neuraminidase; sialidosis I; sialidosis II; lysosomal storage disease; lysosomal exocytosis
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).
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Khan, A.; Sergi, C. Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder. Diagnostics 2018, 8, 29.

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