Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil

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%).

A Novel Clinico-Biochemical Score for Screening of Inherited Metabolic Diseases in Children

“…Many authors in the past have suggested that that parental consanguinity is significantly linked to autosomal recessive metabolic disorders like hyperphenylalaninemias, mucopolysaccharidosis, GM1 gangliosidosis, and glycogen storage disease type I. 16 High consanguinity rate (67.5%), much similar to seen in this study population, has also been recently reported by Sherazi et al 13 Amongst the biochemical variables, raised plasma ammonia was assigned the highest score. Levels were set at >150 umol/L.…”