Selective Screening of High-risk Iranian Patients for the Detection of Inborn Error of Metabolism

Background: despite the rarity of metabolic diseases (the overall incidence of 1:2000 cases), these conditions can lead to devastating and irreversible effects if not diagnosed and treated promptly. selective screening is considered an acceptable method for the detection of these diseases with multiple presentations. methods: panel neonatal screening was applied for the detection of metabolic diseases in 650 high-risk iranian patients in fars province, iran. the inclusion criteria were lethargy, poor feeding, persistent vomiting, cholestasis, intractable seizures, decreased level of consciousness, persistent hypoglycemia, unexplained acid-base disturbance, and unexplained neonatal death. results: organic acidemia with 40 cases (42%) was the most frequent disorder diagnosed in our high risk populations, followed by disorder of galactose metabolism (30%), 15 patient had classic galactosemia (galt<5%). methyl malonic acidemia and propionic acidemia were the most common, they become symptomatic from three days to several months after birth. the most common symptoms in these patients were repeated vomiting, respiratory distress and lethargy. most patient had repeated hospitalization even on special formula. disorder of amino acid metabolism also is not uncommon (17%) in this high risk population, msud was the most common. conclusion: metabolic diseases are not rare in iranian populations. consequently, sensitive methods for prompt diagnosis and treatment are required in our country.