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TABLE 2

Metabolic Screening Tests

SpecimenaTestNotes
Blood Amino acids See Table 3  
 Homocysteine  
 Acylcarnitine profile  
Urine Organic acids  
 GAA/creatine metabolites  
 Purines and pyrimidines  
 Mucopolysaccharide screen  
 Oligosaccharide screen  
SpecimenaTestNotes
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.

a

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

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