Treatments include dietary restrictions and enzyme-replacement therapies.Ĭognitive impairment, seizures, spasticity Long-term treatments are effective for some IEM. In some cases, symptoms may not appear until adolescence or adulthood when patients have residual enzyme activity that allows for slow accumulation of toxic molecules over time. Children may develop and present with dysmorphic facial features. If a delay occurs in obtaining consultation, initial treatment involves discontinuing feeding and providing high-rate glucose infusions. Such situations are medical emergencies requiring immediate consultation with a metabolic specialist. However, some newborns present with symptoms consistent with an IEM before the availability of pending newborn screening results or present with symptoms attributable to an IEM not detectable with screening. Expanded newborn screening, which now includes 34 core conditions, allows for diagnosis in the newborn period and provides the opportunity for early institution of available treatments. Most commonly, IEM are detected at newborn screening. Some IEM can be detected in utero with the use of ultrasonography. Inborn errors of metabolism can present in utero in newborns or in children, adolescents, and adults. For individuals of Ashkenazi Jewish descent, carrier screening, per the American College of Medical Genetics and Genomics, also includes testing for Tay-Sachs disease and four other IEM. For individuals of all ethnic backgrounds, the screening includes testing for a variety of IEM and non-IEM. ![]() The first opportunity to detect IEM occurs during preconception counseling, when pregnant women and couples considering future pregnancies can undergo carrier screening. ![]() Inborn errors of metabolism (IEM), although individually rare, occur in 1 out of every 1,500 births.
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