Frequency of Inborn Errors of Metabolism in a Northeastern Iranian Sample with High Consanguinity Rates.

摘要: Objective Inborn errors of metabolism (IEMs) are disorders with various manifestations that occur mainly in the pediatric population. In countries where consanguineous marriage is common, association between consanguinity and IEMs highly important. No studies have been conducted Iran examining impact on IEMs. Methods this retrospective study, incidences metabolic were evaluated for years 2006 through 2016 North East Regional Diagnostic Laboratory (Pardis Clinical Genetic Laboratory). A total 13,327 infants clinical symptoms referred investigated Newborn screening was performed samples from all patients suspected having Results Of examined, 60 different diagnosed 1,118. The most frequent among our glucose-6-phosphate dehydrogenase deficiency (G6PDD) (14.04%), methylmalonic propionic acidurias (MMA/PA) (9.12%), phenylketonuria (PKU) (8%), isovaleric acidemia (IVA) (6.98%). significant difference found prevalence amino acid offspring those non-consanguineous parents. statistically differences 2 groups organic or fatty acids, carnitine urine cycles, lysosomal storage disorders. 707 1,118 diseases (63.24%) children These findings show can be an important factor inheritance recessive mutations a homozygous state. Conclusion This study greater frequency parents than population high rate consanguinity.