Inborn Errors of Metabolism

Facts: 

Inborn errors of metabolism (IEM) are hereditary diseases
            resulting from incompetence in enzymatic reactions of

intermediary metabolism.

More than 500 IEM are known today. Each of these diseases

alone is quite rare, but as a group,

they affect about 1-2% of newborns and therefore pose a
             significant health problem.

IEM causing clinical manifestations in the neonatal period are
            usually severe, non-specific, and are often lethal if proper therapy
            is not quickly initiated.

Newborn screening can detect a significant number of inherited

metabolic diseases, usually before the first clinical sign appear.

Early treatment can prevent or at least ameliorate the consequences.

Specific diagnosis, even in an infant in whom death seems inevitable,

is of great importance for genetic counseling of the family.

Every effort should be made to determine the diagnosis

while the infant is alive. Postmortem examination is usually not helpful. 

Routine newborn screening should be performed to all neonates.
            Routine newborn screening can detect congenital hypothyroidism,
            phenylketonuria, and galactosaemia. Early diagnosis and treatment of
            these diseases leads to better prognosis and almost normal outcome.

Extended metabolic screen (includes amino acids, organic acids,
           and carnitine profile) is indicated for sick neonates for better diagnosis 
           and management as well as proper genetic counseling for further pregnancies.
           Both tests need only few drops of blood on special filter paper.