The diagnosis of LSDs often involves multiple steps:
1. Clinical Evaluation: A thorough assessment of symptoms and family history. 2. Laboratory Tests: Blood and urine tests to detect enzyme deficiencies or the presence of accumulated substrates. 3. Genetic Testing: Identifies specific mutations responsible for the disorder. 4. Imaging Studies: MRI or ultrasound may be used to detect organomegaly or other abnormalities.
Early diagnosis is vital for initiating appropriate therapies and improving outcomes.
