TABLE 2

Metabolic Screening Tests

SpecimenaTestNotes
BloodAmino acidsSee Table 3
Homocysteine
Acylcarnitine profile
UrineOrganic acids
GAA/creatine metabolites
Purines and pyrimidines
Mucopolysaccharide screen
Oligosaccharide screen
  • See Fig 1.

  • a Serum lead, thyroid function studies not included as “metabolic tests” and to be ordered per clinician judgment.