Clinical and laboratorial study of 19 cases of mucopolysaccharidoses
Rev. Hosp. Clin. Fac. Med. Univ. Säo Paulo
;
55(6): 213-218, Nov.-Dec. 2000. ilus, tab
Article
Dans Anglais
| LILACS
| ID: lil-283235
RESUMO
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. METHOD:
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).DISCUSSION:
The high relative frequency of Maroteaux-Lamy disease contrasts with most reports in the literature and could express a population variability
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Mucopolysaccharidoses
Type d'étude:
Etude diagnostique
Limites du sujet:
Adolescent
/
Adulte
/
Enfant
/
Enfant d'âge préscolaire
/
Femelle
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Rev. Hosp. Clin. Fac. Med. Univ. Säo Paulo
Thème du journal:
Médicament
Année:
2000
Type:
Article
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