Lysinuric protein intolerance is an uncommon genetic disorder of metabolism due to mutations in the SLC7A7 gene, which results in the defective transport of cationic amino acids. At Protheragen, we focus on enhancing the diagnosis and therapy of rare kidney disorders as the leading research service provider. With broad scientific knowledge and sophisticated tools, we provide holistic and tailored services for every stage of the drug development process for LPI, from target identification and validation to preclinical evaluation.
Overview of Lysinuric Protein Intolerance
Lysinuric protein intolerance, also called cationic aminoaciduria. In Finland, the estimated incidence of lysinuric protein intolerance is 1 in 60,000 newborns, and in Japan it is 1 in 57,000. While lysinuric protein intolerance is marked by protein malnutrition and growth failure, it is actually a profound multisystemic disorder whereby any organ can be impacted, including the gastrointestinal tract, lungs, and kidneys. Usual findings also include some form of a hematological defect, hypercholesterolemia, altered immune response, and hypertriglyceridemia.
Fig.1 Membranoproliferative glomerulonephritis in lysinuric protein intolerance. (Baltu, D.,
et al., 2025)
Pathogenesis of Lysinuric Protein Intolerance
Lysinuric protein intolerance is a rare autosomal recessive inheritance disorder that is placed in the inborn error of metabolism (IEM) group. Mutations in the SLC7A7 gene, which encodes the y+LAT-1 protein, cause the disorder. A defective y+LAT-1 protein leads to abnormal cationic amino acid transport, which causes insufficient gastrointestinal absorption and urinary loss of lysine, ornithine, and arginine. A shortage of ornithine and arginine compromises the normal functioning of the urea cycle (the primary pathway for nitrogen disposal in humans) since both amino acids are urea cycle intermediates.
Fig.2 The genomic position and gene structure of SLC7A7. (Kalay, I.,
et al., 2023)
Therapeutics Development for Lysinuric Protein Intolerance
| Therapeutics |
Targets |
Key Findings/Mechanism |
Research Stage |
| L-citrulline |
Urea cycle |
Resupplies reserve of arginine and ornithine, which minimizes hyperammonemia. |
Approved |
| L-carnitine |
Metabolic support |
Combats carnitine depletion due to a restrictive diet. |
Approved |
| Sodium benzoate |
Hyperammonemia |
Promotes ammonia excretion through different routes, minimizing toxic accumulation. |
Approved |
Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.
Our Services
Protheragen offers a complete package of specialized research services aimed at addressing the specific problems related to lysinuric protein intolerance drug development. We focus on the development of precise and thorough diagnostics, the creation of new therapeutics, and the thorough evaluation of results from preclinical studies. Our complete system incorporates cutting-edge creation of disease models along with essential pharmacology, which includes pharmacokinetic studies as well as thorough safety assessments vital for drug development.
Therapeutic Development Platforms for Lysinuric Protein Intolerance
Disease Models Development for Lysinuric Protein Intolerance
It's critical to have precise disease models when conducting lysinuric protein intolerance research. We have created and refined in vitro and in vivo models that are physiologically relevant and recapture critical features of the pathology of lysinuric protein intolerance. These models are critical for target validation as well as for efficacy, mechanism, and safety tests in translational research.
- Patient-derived cells with SLC7A7 mutations
- HEK293 cells engineered with SLC7A7 pathogenic variants
- iPSC-derived kidney organoids
- And more
Animal models are created by knocking out the Slc7a7 gene, successfully replicating the human disease's characteristics.
- SLC7A7 knockout mouse model
- And more
Drug Pharmacokinetics & Safety Evaluation Services
In Vitro ADME Services
- Renal Clearance Assay
- Drug-Transporter Interaction Screening
- Metabolic Stability Assay
- CYP Inhibition Screening
- Plasma Protein Binding
With Protheragen, you have a dedicated partner for overcoming challenges associated with lysinuric protein intolerance drug development. Our comprehensive, unique knowledge of the biology of rare kidney disorders and our integrated, end-to-end service platform can speed up your lysinuric protein intolerance research program. Contact us today so we can strategize together on advancing your lysinuric protein intolerance research and therapeutic goals.
References
- Kalay, Irem et al. "Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings." Molecular genetics and metabolism reports 37 (2023): 101022.
- Baltu, Demet et al. "Membranoproliferative glomerulonephritis in a patient with lysinuric protein intolerance: lesson for the clinical nephrologist." Journal of nephrology 38.1 (2025): 279-282.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
