Can I read MPS screening methods, the berry spot and acid turbidity tests, cause a high incidence of false‐negative results in sanfilippo and morquio syndromes on EtoBox?

MPS screening methods, the berry spot and acid turbidity tests, cause a high incidence of false‐negative results in sanfilippo and morquio syndromes by Chang Chih‐Kuang; Lin Shuan‐Pei; Lee Shyue‐Jye; Wang Tuen‐Jen is a Medicine article available to read on EtoBox.

What is MPS screening methods, the berry spot and acid turbidity tests, cause a high incidence of false‐negative results in sanfilippo and morquio syndromes about?

## Abstract Because of differences in the types and quantities of glycosaminoglycans (GAGs) in various mucopolysaccharidoses (MPSs), MPS screening tests, including the Berry spot and acid turbidity tests, are not specific or sensitive enough for the preliminary diagnosis of MPS. A false‐negative result is common. We analyzed urine samples collected from 492 patients who were examined for inborn errors of metabolism using the Berry spot and acid turbidity (qualitative and quantitative) tests. Of those, 48 MPS patients (seven with MPS I, 17 with MPS II, nine with MPS III, 11 with MPS IV, and four with MPS VI) underwent preliminary differentiation between MPS types by two‐dimensional electrophoresis (2D‐EP), and were confirmed by enzymatic assay. Approximately 21.0% and 7.1% of the 492 samples showed positive reactions in the Berry spot and acid turbidity tests, respectively. Of these, a total of 35 samples with MPS types I, II, and VI showed strong positive reactions in both tests. Five patients with Sanfilippo (MPS III) and six patients with Morquio (IV) syndromes showed false‐negative results in both tests. In our study, approximately 13.8% (68 in 492 samples) samples showed a posi

Who reads MPS screening methods, the berry spot and acid turbidity tests, cause a high incidence of false‐negative results in sanfilippo and morquio syndromes?

Author

Chang Chih‐Kuang; Lin Shuan‐Pei; Lee Shyue‐Jye; Wang Tuen‐Jen

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 0887-8013)

Published

2002

Language

EN

Field

Medicine (Health Sciences)