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

Abstract:

: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.

journal_name

Pediatr Clin North Am

authors

Schillaci LP,DeBrosse SD,McCandless SE

doi

10.1016/j.pcl.2017.11.003

subject

Has Abstract

pub_date

2018-04-01 00:00:00

pages

209-230

issue

2

eissn

0031-3955

issn

1557-8240

pii

S0031-3955(17)30178-5

journal_volume

65

pub_type

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