Inborn errors of metabolism (IEMs) individually are rare but collectively are common. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. These disorders may affect the function of any organ and appear at any age making the diagnosis and treatment challenging. An understanding of the major clinical manifestations of inborn errors of metabolism provides the basis for knowing when to consider the diagnosis, however, a high index of suspicion is most important in making the diagnosis.
For patients with suspected or known inborn errors of metabolism, successful treatment depends on early institution of therapy aimed at metabolic stabilization. Asymptomatic neonates with abnormal newborn screening results for an inborn error of metabolism may require emergent evaluation. The evaluation includes confirmatory testing, and as appropriate, initiation of disease-specific management.
The metabolic and nutrition program serves children and adults diagnosed with metabolic conditions such as PKU, galactosemia and MCAD. The program provides evaluation and management of all inborn errors of metabolism. When appropriate, a metabolic dietitian provides individualized consultation and management of special metabolic diets.