Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis: a study of 2,000 urine samples.
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.
Piraud
M
M
Centre d'Etudes des Maladies Héréditaires du Métabolism, Hôpital Debrousse, Lyon, France.
Boyer
S
S
Mathieu
M
M
Maire
I
I
D000293:Adolescent; D000328:Adult; D000375:Aging / Q000652:urine; D002648:Child; D002675:Child, Preschool; D003871:Dermatan Sulfate / Q000652:urine; D004586:Electrophoresis; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine*; D006497:Heparan Sulfate / Q000652:urine; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis* / Q000652:urine*; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis / Q000652:urine; D009844:Oligosaccharides / Q000652:urine; D012016:Reference Values
D003871:Dermatan Sulfate; D006025:Glycosaminoglycans; D006497:Heparan Sulfate; D009844:Oligosaccharides