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      Inborn Errors of Metabolism with Acidosis

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      Pediatric Clinics of North America
      Elsevier BV

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          Abstract

          <p class="first" id="d3808506e77">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. </p>

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          Author and article information

          Journal
          Pediatric Clinics of North America
          Pediatric Clinics of North America
          Elsevier BV
          00313955
          April 2018
          April 2018
          : 65
          : 2
          : 209-230
          Article
          10.1016/j.pcl.2017.11.003
          29502910
          7377611a-9271-4f75-b512-8a669cdbca74
          © 2018

          https://www.elsevier.com/tdm/userlicense/1.0/

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