Diagnosing Fabry Disease in neonates can be challenging due to the lack of specific symptoms in early life. However, early detection is crucial for management and treatment. Diagnostic methods include:
- Enzyme Assay: Measures the activity of alpha-galactosidase A in blood or tissue samples. Reduced enzyme activity is indicative of Fabry Disease. - Genetic Testing: Identifies mutations in the GLA gene. This is particularly important for confirming the diagnosis and for family planning. - Newborn Screening: Some regions have implemented newborn screening programs to detect Fabry Disease early.
