American Academy of Pediatrics

TABLE 2

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

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.

^a

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