Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism.

Pediatr Clin North Am

Department of Genetics and Genome Sciences, Case Western Reserve University, Center for Human Genetics, University Hospitals Cleveland Medical Center, 11100 Euclid Avenue, Suite 1500 Lakeside Building, Cleveland, OH 44106, USA. Electronic address:

Published: April 2018

When a child presents with high-anion gap metabolic acidosis, the pediatrician can proceed with confidence by recalling some basic principles. Defects of organic acid, pyruvate, and ketone body metabolism that present with acute acidosis are reviewed. Flowcharts for identifying the underlying cause and initiating life-saving therapy are provided. By evaluating electrolytes, blood sugar, lactate, ammonia, and urine ketones, the provider can determine the likelihood of an inborn error of metabolism. Freezing serum, plasma, and urine samples during the acute presentation for definitive diagnostic testing at the provider's convenience aids in the differential diagnosis.

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http://dx.doi.org/10.1016/j.pcl.2017.11.003DOI Listing

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