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

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World Journal of Cardiology

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1949-8462

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Cardiol. Nov 26, 2014; 6(11): 1149-1155
Published online Nov 26, 2014. doi: 10.4330/wjc.v6.i11.1149

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.

Citation: Byers SL, Ficicioglu C. Infant with cardiomyopathy: When to suspect inborn errors of metabolism? World J Cardiol 2014; 6(11): 1149-1155
URL: https://www.wjgnet.com/1949-8462/full/v6/i11/1149.htm
DOI: https://dx.doi.org/10.4330/wjc.v6.i11.1149

Byers SL, Ficicioglu C. Infant with cardiomyopathy: When to suspect inborn errors of metabolism? World J Cardiol 2014; 6(11): 1149-1155 [PMID: 25429327 DOI: 10.4330/wjc.v6.i11.1149]

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