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