Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:470

Lysinuric protein intolerance

Also called Hyperdibasic aminoaciduria, LPI

Body system
Inborn errors of metabolism
Inheritance pattern
Autosomal recessive
Typical age of onset
Infancy, Neonatal
Estimated prevalence
1-9 / 100 000 (Europe)
Rarity class
1-9 / 100 000

ORPHA:470 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Failure to thrive
  • Abnormal renal tubule morphology
  • Proteinuria
  • Glomerulonephritis
  • Nephrocalcinosis
  • Renal tubular dysfunction