lysinuric protein intolerance
Findings
No curated finding names lysinuric protein intolerance yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by disturbance in amino acid metabolism.
Definition from the Mondo Disease Ontology (MONDO:0009109), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
82 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- 10 of 10 reported patients
- HyperlysinuriaHPOHP:0003297
- 10 of 10 reported patients
- Frequent (30% to 79% of cases)
- HypolysinemiaHPOHP:0500142
- 10 of 10 reported patients
- Protein avoidanceHPOHP:0002038
- 9 of 10 reported patients
- OsteoporosisHPOHP:0000939
- 5 of 6 reported patients
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
Show the remaining 70
- ArgininuriaHPOHP:0003268
- Frequent (30% to 79% of cases)
- Bone marrow hypercellularityHPOHP:0031020
- Frequent (30% to 79% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Frequent (30% to 79% of cases)
- CirrhosisHPOHP:0001394
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- Decreased circulating HDL-C concentrationHPOHP:0003233
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC7A7HGNC:11065
- Definitive · Ambry Genetics · Autosomal recessive · 2021
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: lysinuric protein intolerance
- Also called
- hyperdibasic aminoaciduriahyperdibasic aminoaciduria type 2LPI