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Biochemical testing recommendations for metabolic evaluation
| Tier 1 |
| Creatine kinase |
| Plasma acylcarnitine profile |
| Urine organic acids |
| Plasma lactate/pyruvate |
| Plasma amino acids |
| Enzyme analysis1 |
| Tier 2 |
| Carbohydrate deficient transferrin analysis |
| Urine glycosaminoglycans |
| Lysosomal storage disease enzyme panel (large panels are available through many laboratories) |
| Tier 3 |
| Specific gene sequencing |
If there is a high suspicion for a single metabolic disease, for example Pompe disease.
