Infant with cardiomyopathy: When to suspect inborn errors of metabolism?

Table 2 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

¹If there is a high suspicion for a single metabolic disease, for example Pompe disease.