Application of a protocol for the detection of disorders of sialic acid metabolism to 124 high-risk Brazilian patients.

Abstract

Lysosomal storage disorders (LSD) present great clinical variability. Included in this group are sialic acid metabolism disorders (SAMD). In the present study, we describe the application of a 3-step protocol for the diagnosis of SAMD, including (1). oligosaccharide and sialyloligosaccharide chromatography; (2). quantitative determination of sialic acid; and (3). measurement of neuraminidase activity. Application of our protocol to 124 individuals at risk for SAMD led to the diagnosis of five affected patients, two with type I sialidosis, one with type II sialidosis, and two with galactosialidosis. Due to its simplicity and efficiency, we propose the use of this protocol for the diagnostic evaluation of patients with suspected SAMD, which could be specially useful to non-specialized laboratories and to services located in developing countries.

• Authors: Cristina D Castilhos, Alexandre S Mello, Maira G Burin, Régis R Guidobono, Silvane Gotardo, Roberto Giugliani, Janice C Coelho
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 119A Issue 3 Pg. 348-51 (Jun 15 2003) ISSN: 1552-4825 [Print] United States
• PMID: 12784303 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2003 Wiley-Liss, Inc.

Chemical References

• Oligosaccharides
• Sialic Acids
• Neuraminidase
• beta-Galactosidase

Topics

• Adolescent
• Brazil
• Child
• Child, Preschool
• Clinical Protocols
• Humans
• Infant, Newborn
• Lysosomal Storage Diseases (diagnosis, urine)
• Neuraminidase (deficiency)
• Oligosaccharides (chemistry, urine)
• Risk Factors
• Sialic Acids (metabolism, urine)
• beta-Galactosidase (metabolism)