Diagnosis Confirm your suspicion with a diagnostic testRheumatologists are specialists in multisystem disorders and therefore are more likely to make a proper diagnosis.
Useful initial diagnostic steps in case of clinical suspicion include: Quantitative (and qualitative) determination of urinary glycosaminoglycans (Mucopolysaccharidosis I [MPS I]) Chitotriosidase (Gaucher disease) Plasma/urinary globotriaosyceramide (Fabry disease) Creatine kinase (Pompe disease)
However, the definitive diagnosis of a lysosomal storage disorder is made by an assay of the activity of the deficient enzyme. This enzyme activity test is usually carried out in hospitals and laboratories specialising in lysosomal storage disorders. Referral to a metabolic or genetic specialist in cases of suspected lysosomal storage disorders is advisable. Contact Genzyme for further information. To be certain of the interpretation of the results, all requests for biochemical analyses must be accompanied by a full clinical description of the patient. Quick Fact: In a survey of 256 Fabry patients, the average time from first symptoms presentation to Fabry disease diagnosis was 16 years! Go to DIAGNOSTIC TESTS to learn which tests should be conducted for a confirmatory diagnosis
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