metabolic disturbances

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.

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