Clinical and laboratorial study of 19 cases of mucopolysaccharidoses.
The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases.


METHODS
We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in 19 cases.


RESULTS
Not all patients showed increased GAG levels in urine; enzyme assays should be performed in all cases with strong clinical suspicion. The diagnosis was made on average at the age of 48 months, and the 19 MPS cases, after a full clinical, radiological, and biochemical study, were classified as follows: Hurler - MPS I (1 case); Hunter - MPS II (2 cases); Sanfilippo - MPS III (2 cases); Morquio - MPS IV (4 cases); Maroteaux-Lamy - MPS VI (9 cases); and Sly - MPS VII (1 case).


CONCLUSIONS
The high relative frequency of Maroteaux-Lamy disease contrasts with most reports in the literature and could express a population variability.
Albano
L M
LM
Genetic Unit of the Department of Pediatrics, Hospital das Clinicas, University of São Paulo.
Sugayama
S S
SS
Bertola
D R
DR
Andrade
C E
CE
Utagawa
C Y
CY
Puppi
F
F
Nader
H B
HB
Toma
L
L
Coelho
J
J
Leistner
S
S
Burin
M
M
Giugliani
R
R
Chong
A K
AK
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006025:Glycosaminoglycans / Q000378:metabolism / Q000652:urine; D006801:Humans; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis* / Q000503:physiopathology; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis / Q000503:physiopathology; D010641:Phenotype
D006025:Glycosaminoglycans