ABSTRACT
Deficient enzyme activity may cause congenital metabolic defects. These defects are inherited in an autosomal recessive, autosomal dominant, and X-linked patterns. This study was aimed at investigating the occurrence of metabolic diseases in Qazvin Province. This cross-sectional study was performed on 79,100 children aged 12 years or less between 2000 and 2010. Clinical manifestations, laboratory findings, and all other essential information were assessed to precisely diagnose the metabolic diseases. The sorted information on congenital metabolic defects of the patients, information included in a checklist, and data were analyzed using SPSS. A total of 57 metabolic disorders were recorded. The difference in the prevalence of metabolic disorders between male [29 cases] and female [28 cases] was not statistically significant. The most frequent congenital metabolic disorder among our patients was phenylketonuria [PKU; 5 per 1,000 cases], and the least common disorder was galactosemia [3 per 1,000 cases]. Timely detection and management of congenital metabolic disorders can help save the affected children. Prenatal screening programs, molecular gene therapy, and counseling for consanguineous marriage can play important roles in reducing the rate of metabolic disorders in this province