Metabolic Evaluation of the Sick Neonate

Inherited metabolic diseases are rare causes of neonatal morbidity, but they are associated with significant recurrence risks for the parents. Prompt identification and treatment of an infant with an inherited metabolic disease can minimize morbidity, mortality, and lifelong developmental problems. Diagnosis often requires specialized laboratory testing, but common laboratory tests can help identify those infants needing further evaluation. This paper reviews the laboratory abnormalities which can be found in various inherited metabolic diseases and can guide selection of specialized metabolic testing. Consultation with a metabolic specialist is essential for timely diagnosis and treatment to ensure the best possible outcome.