Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil
J. inborn errors metab. screen
;
3: e140015, 2015. tab
Article
Dans Anglais
|
LILACS-Express
| LILACS
| ID: biblio-1090862
ABSTRACT
Abstract In this 25-year retrospective study, we analyzed data from 200 medical records concerning diagnosis, consanguinity, and geographic origin from probands with autosomal recessive inborn errors of metabolism in a reference service based in Campinas, Brazil. Consanguinity was confirmed by 56 (28%) couples, with similar values among groups of intermediary metabolism (25.3%), energy metabolism (30.3%), and complex molecules (29%). The most frequent union was first cousins (47.2%). Consanguinity was considered possible in other 16 (8%) couples. Concerning the diagnosis of multiple cases, the most frequent conditions were hyperphenylalaninemias, mucopolysaccharidosis type I, GM1 gangliosidosis, and glycogen storage disease type I. No disease cluster could be related temporally and in proximity in this work. A higher consanguinity rate was found between parents born in Bahia (33.3%), followed by Pernambuco (27.2%), Minas Gerais (19.7%), and Paraná (14.8%).
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Type d'étude:
Étude observationnelle
Pays comme sujet:
Amérique du Sud
/
Brésil
langue:
Anglais
Texte intégral:
J. inborn errors metab. screen
Thème du journal:
Medicina Cl¡nica
/
Patologia
Année:
2015
Type:
Article
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
UNICAMP/BR
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