Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis: a study of 2,000 urine samples.

Abstract

Two thousand urine samples (from patients presenting with clinical features suggestive of a mucopolysaccharidosis, MPS) were analysed by a procedure that included a quantitative measurement of glycosaminoglycan (GAG) hexuronic acids (harmine reagent), a qualitative GAG analysis (cellulose acetate electrophoresis) and a study of urinary oligosaccharide patterns. One hundred and seventy MPS and 29 oligosaccharidosis-affected patients were found, but 23 MPS patients among the 170 would have been missed by use of a quantitative procedure only. Fourteen of these (mainly MPS IV A) were detected on the basis of abnormal electrophoresis and the 9 others on the basis of abnormal urinary oligosaccharide patterns (MPS IV B patients). Our results emphasize that normal quantitative GAG excretion alone cannot rule out a diagnosis of MPS; qualitative analysis is also required, as well as oligosaccharide screening.

• Authors: M Piraud, S Boyer, M Mathieu, I Maire
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 221 Issue 1-2 Pg. 171-81 (Nov 30 1993) ISSN: 0009-8981 [Print] Netherlands
• PMID: 8149634 (Publication Type: Comparative Study, Journal Article)

Chemical References

• Glycosaminoglycans
• Oligosaccharides
• Dermatan Sulfate
• Heparitin Sulfate

Topics

• Adolescent
• Adult
• Aging (urine)
• Child
• Child, Preschool
• Dermatan Sulfate (urine)
• Electrophoresis
• Female
• Glycosaminoglycans (urine)
• Heparitin Sulfate (urine)
• Humans
• Infant
• Infant, Newborn
• Male
• Mucopolysaccharidoses (diagnosis, urine)
• Mucopolysaccharidosis IV (diagnosis, urine)
• Oligosaccharides (urine)
• Reference Values