Infants with this disorder usually present after weaning with recurrent diarrhea, failure to thrive and episodes of stupor. As the disease can show varying multisystem presentations, it is likely to be misdiagnosed [2]. [indianpediatrics.net]

Lysinuric protein intolerance presenting with multiple fractures. Mol Genet Metab Rep 2014;1:176-83. 5. [mjdrdypu.org]

Over time, patients may present delayed growth, osteoporosis, hepatosplenomegaly, and life-threatening complications such as alveolar proteinosis, haemophagocytic lymphohistiocytosis and macrophage activation syndrome. [bone-abstracts.org]

The classic form of LPI is, however, the neonatal presenting form. [themedicalbiochemistrypage.org]

It usually presents with cystine stone formation in the kidneys; a quarter of patients experience symptoms in the first decade of life. [patient.info]

L-Lysine Health Benefits Lysine supplements are POSSIBLY EFFECTIVE in [6] : Treatment of lysine deficiency Replacement of lysine in individuals with lysinuric protein intolerance, but long term effects are questionable [11] Treatment of labial herpes [nutrientsreview.com]

Because the disorders can be so serious, early diagnosis and treatment are critical. Newborn babies get screened for many of them, using blood tests. Treatments may include special diets, medicines, and supplements. [icdlist.com]

Treatment and prognosis [ edit ] Treatment of LPI consists of protein-restricted diet and supplementation with oral citrulline. [en.wikipedia.org]

Citrulline has also been found effective as a treatment option in LPI as it is changed to arginine in our body. [mjdrdypu.org]

*Treatment of peptic ulcer *Treatment of anemia *Treatment of rheumatoid arthritis *Needed for production of red & white blood cells ,AminoAcids,AminoAcids 126,ESSENTIAL FATTY ACIDS,2,12/10/2001,page,publish,ESSENTIAL FATTY ACIDS, ESSENTIAL FATTY ACIDS [dcnutrition.com]

Pulmonary involvement appears to play a major role in the prognosis of the disease. [ojrd.biomedcentral.com]

Treatment and prognosis [ edit ] Treatment of LPI consists of protein-restricted diet and supplementation with oral citrulline. [en.wikipedia.org]

[…] renal complications, and treatment of such complications with corticosteroids is found to be effective in some patients. [1] Therapy with bisphosphonates is currently under investigation as osteopenia leading to osteoporosis is a major feature. [5] The prognosis [mjdrdypu.org]

The mental prognosis varies from normal development to moderate retardation; most patients are normal. Four patients have had psychotic periods. The final height in treated patients has been slightly subnormal or low-normal. [ommbid.mhmedical.com]

Prognosis Malnutrition and a low-protein diet increase morbidity. Attacks become less frequent with increasing age. [patient.info]

[…] leukopenia chronic hyperammonemia while cationic aminoaciduria (lysine, arginine and ornithine) during L-citrulline supplementation bone marrow examination: red cell and granulocytes phagocytosis by histiocytes and granulocytes precursors ( 8949349 ) Etiology [humpath.com]

The role of dead cell clearance in the etiology and pathogenesis of systemic lupus erythematosus: dendritic cells as potential targets. Expert Rev Clin Immunol. 2014;10:1151–64. [ojrd.biomedcentral.com]

Lysinuric protein intolerance: mechanisms of pathophysiology. Mol Genet Metab. 2004 Apr;81 Suppl 1:S27-37. Review. Sperandeo MP, Andria G, Sebastio G. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. [ghr.nlm.nih.gov]

Lysinuric protein intolerance mechanisms of pathophysiology. Mol Genet Metab. 2004;81:S27-37. 5. Maines E, Comberiati P, Piacntini GL, Boner AL, Peroni DG. [indianpediatrics.net]

A major contributor to the broad pathophysiology observed in LPI patients is most likely unbalanced metabolism of intracellular arginine. [themedicalbiochemistrypage.org]

There is no pathophysiological rational or clear benefit that justifies promoting this treatment, which is associated with an increased risk of infections. [ojrd.biomedcentral.com]

For preventing cold sores from recurring, 500-1248 mg taken daily or 1000 mg taken three times daily has been used. [emedicinehealth.com]

Relieving migraine headache (using lysine acetylsalicylate ) [9] Increasing calcium absorption, but it is not clear if this can help in treatment of osteoporosis Lysine supplements are PROBABLY INEFFECTIVE in the prevention or treatment of genital herpes [nutrientsreview.com]

Lysine seems to prevent the herpes virus from growing. Uses Uses & Effectiveness ? Possibly Effective for Cold sores ( herpes simplex labialis). [webmd.com]

This hypothesis is supported by experiments in which hyperammonemia after protein or amino nitrogen loading is prevented by intravenous infusion of arginine or ornithine. [ommbid.mhmedical.com]