الفهرس 
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Abstract
Inborn error of metabolism (IEM) refers to a disorder in which single gene defects cause clinically significant blocks in metabolic pathways IEM results from mutations in DNA that code for a specific protein, which may act as an enzyme, receptor, transport vehicle, membrane pump or structural element,Most IEM are inherited as autosomal recessive trait and neonates with parental consanguinity are at increased risk The incidence of individual, IEM is relatively low with an estimate of 1 in 100,000 to 1 in 200,000 live-births, However, The precise incidence rates of IEM are difficult to assessd because of undiagnosed cases.