ArticleJournal of clinical laboratory analysis2002
MPS screening methods, the Berry spot and acid turbidity tests, cause a high incidence of false-negative results in sanfilippo and morquio syndromes.
Article in Journal of clinical laboratory analysis, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 51 citations in OpenAlex.
- College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance.Genetics in medicine open · 2025Article
- Mucopolysaccharidosis Type IIIE: A Real Human Disease or a Diagnostic Pitfall?Diagnostics (Basel, Switzerland) · 2024Review
- Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing.Frontiers in genetics · 2023Article
- Misdiagnosis in mucopolysaccharidoses.Journal of applied genetics · 2022Review
- Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan.Journal of personalized medicine · 2022Article
- Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019).Orphanet journal of rare diseases · 2020Article
- Diagnosis of Mucopolysaccharidoses.Diagnostics (Basel, Switzerland) · 2020Review
- Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease.Journal of clinical medicine · 2020Review
- Cardiac Evaluation using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses.Diagnostics (Basel, Switzerland) · 2020Article
- An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan.Diagnostics (Basel, Switzerland) · 2019Article
- Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III.Orphanet journal of rare diseases · 2019Review
- Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI.The Journal of pediatrics · 2019Article
- The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses.Molecular genetics & genomic medicine · 2018Article
- Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.Molecular genetics and metabolism · 2018Review
- Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan.Orphanet journal of rare diseases · 2018Article
- Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).Expert opinion on orphan drugs · 2017Article
- Glycan-based biomarkers for mucopolysaccharidoses.Molecular genetics and metabolism · 2014Review
- Validation of Urinary Glycosaminoglycans in Iranian patients with Mucopolysaccharidase type I: The effect of urine sedimentation characteristics.Iranian journal of child neurology · 2014Article
- A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.Orphanet journal of rare diseases · 2013Article
- Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder.Acta paediatrica (Oslo, Norway : 1992) · 2013Review
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
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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 positive reaction in the Berry spot test but a negative one in the acid turbidity test, for unknown reasons. The Berry spot and acid turbidity tests are used extensively for the preliminary diagnosis of MPS in Asia; however, the possibility of a misdiagnosis of MPS type III and IV with both tests should be kept in mind. For accurate diagnosis and confirmation of MPS, the 2D-EP method and enzymatic assay are recommended. They provide high sensitivity, specificity, and efficiency in diagnosing MPS.
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