The Frequency of Hereditary Metabolic Diseases in Children Referred to Amirkola Children Hospital (2005-2015)

BACKGROUND AND OBJECTIVE: Hereditary metabolic diseases are individually rare disorders, early diagnosis and treatment are very important which can prevent from permanent damage to the nervous system and mental retardation and other irreparable injury and even death in these patients. This study was done to evaluate the prevalence of hereditary metabolic diseases in children admitted to Amirkola children hospital 1384-94. METHODS: In this cross-sectional study, medical records of patients with hereditary metabolism disorders from 1384 to 1394 were studied. Related information to age, gender, family relationship, family history, disorder type, diagnostic criteria and disease outcome were extracted and analyzed. FINDINGS: In this study, 65 children were diagnosed with different types of metabolic disease research. The common disorders were maple syrup urine disease 14 patients (21.5%), methylmalonic acidemia 10 (15.3%), mitochondrial 8(12.3%) galactosemia 6(2.9%), respectively. Among children, 36 cases (55.4%) were male and positive family history of metabolic disorders was observed in 15 children (23.1%). Mortality of metabolic disorders was in 26 children (40%) and the rest of the 19 children (54.2%) had developmental delay. CONCLUSION: In this study 19 different types of hereditary metabolic diseases were detected that more than 25% of patients had a positive family history of this disorder.