How are Metabolic Disorders Diagnosed in Neonates?
Early diagnosis is crucial for effective management. Some common diagnostic tools include:
- Newborn Screening: A routine test performed shortly after birth to detect certain genetic, endocrine, and metabolic disorders. - Blood Tests: Measurement of glucose, electrolytes, bilirubin, and other relevant markers. - Urine Tests: Used to detect abnormal metabolites. - Genetic Testing: Identifies specific mutations responsible for inherited metabolic disorders.
