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Metabolic Screening Tests
| Specimen a | Test | Notes |
|---|---|---|
| Blood | Amino acids | See Table 3 |
| Homocysteine | ||
| Acylcarnitine profile | ||
| Urine | Organic acids | |
| GAA/creatine metabolites | ||
| Purines and pyrimidines | ||
| Mucopolysaccharide screen | ||
| Oligosaccharide screen |
See Fig 1.
Serum lead, thyroid function studies not included as “metabolic tests” and to be ordered per clinician judgment.
