An Infant Presenting with Seizures and Renal Failure

Clin Chem. 2021 Jan 30;67(2):444-446. doi: 10.1093/clinchem/hvaa265.
No abstract available

Keywords: AGXT; oxalate; primary hyperoxaluria; renal failure; seizures.

Publication types

  • Case Reports

MeSH terms

  • Exome Sequencing
  • Fatal Outcome
  • Humans
  • Hyperoxaluria, Primary / complications*
  • Hyperoxaluria, Primary / diagnosis
  • Hyperoxaluria, Primary / therapy
  • Infant
  • Male
  • Renal Insufficiency / diagnosis*
  • Renal Insufficiency / etiology*
  • Seizures / diagnosis*
  • Seizures / etiology*
  • Transaminases / genetics

Substances

  • Transaminases
  • Alanine-glyoxylate transaminase

Supplementary concepts

  • Primary hyperoxaluria type 1