Which inborn errors of metabolism should be included in the differential diagnoses for hypoxic-ischemic encephalopathy (HIE)?

Updated: Jul 18, 2018
  • Author: Santina A Zanelli, MD; Chief Editor: Dharmendra J Nimavat, MD, FAAP  more...
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Answer

Several inborn errors of metabolism can present in the neonatal period (usually not present at birth) with features similar to HIE. [38] Those include the following:

  • Nonketotic hyperglycinemia

  • Disorders of pyruvate metabolism

  • Urea cycle defects

  • Zellweger syndrome

  • Mitochondrial disorders


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