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
em En
| LILACS
| ID: lil-283235
Biblioteca responsável:
BR1.1
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
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Mucopolissacaridoses
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Rev. Hosp. Clin. Fac. Med. Univ. Säo Paulo
Assunto da revista:
MEDICINA
Ano de publicação:
2000
Tipo de documento:
Article