Inborn errors of metabolism

Inborn errors of metabolism

Inheritance

Most of these diseases are inherited as autosomal recessive.

Clinical picture in neonatal period

● Inborn errors of metabolism causing clinical manifestations in the neonatal period are usually severe and are often lethal if proper therapy is not promptly initiated.

● Clinical findings are usually nonspecific and similar to those seen in infants with sepsis.

● Infants with metabolic disorders are usually normal at birth, however, signs and symptoms such as lethargy, poor feeding, convulsions, and vomiting may develop in few hours to days after birth.

● Hepatomegaly is a common finding in a variety of inborn errors of metabolism.

● Occasionally, an unusual urine odor may offer a good help to the diagnosis.

● A history of clinical deterioration in a previously normal neonate should suggest an inborn error of metabolism. 

Diagnosis

● A history of consanguinity and /or a previous death in the neonatal period should increase suspicion of the diagnosis.

● Diagnosis usually requires a variety of specific laboratory studies.

● Intrauterine diagnosis of most genetic conditions is now feasible and is routinely used to detect affected fetuses in the population at risk.

Treatment

- Most inborn errors of metabolism presenting in the neonatal period are lethal if specific treatment is not initiated immediately.

- Early specific treatment often prevents the deleterious effects of these conditions, especially on the central nervous system.