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]

[…] levels were approximately 10 times higher than control level and lysine levels were within the normal range, in contrast to the classical form of the disease in which serum citrulline is approximately 100 times normal levels and hyperlysinemia is usually present [nature.com]

• Turkish

  Deutsch (German) العربية (Arabic) Français (French) Русский (Russian) ಕನ್ನಡ (Kannada) 한국어 (Korean) עברית (Hebrew) Український (Ukrainian) اردو (Urdu) Magyar (Hungarian) मानक हिन्दी (Hindi) Indonesia (Indonesian) Italiano (Italian) தமிழ் (Tamil) Türkçe (Turkish [synonyms.net]

  […] provided by LOINC Turkish Translation Group and the Turkish Ministry of Health) Lizin:SubKons:Zmlı:Kan.nokta:Kant: Lizin:SubKons:Zmlı:Kan.nokta:Kant: [r.details.loinc.org]

  Valimahamed-Mitha S....De Blic J. 2014 29 Regulation of GPR55 in rat white adipose tissue and serum LPI by nutritional status, gestation, gender and pituitary factors. ( 24378736 ) Imbernon M...Nogueiras R 2014 30 Molecular and clinical evaluation of Turkish [malacards.org]

  Güzel-Ozantürk A, Ozgül RK, Unal O, Hişmi B, Aydın Hİ, Sivri S, Tokatlı A, Coşkun T, Aksöz E, Dursun A (2013) Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance. [jmhg.springeropen.com]

• Multiple Organ Dysfunction Syndrome

  Some patients have developed acute or chronic respiratory insufficiency, which in a few has led to fatal pulmonary alveolar proteinosis and to multiple organ dysfunction syndrome. [ommbid.mhmedical.com]

• Vietnamese

  Русский (Russian) ಕನ್ನಡ (Kannada) 한국어 (Korean) עברית (Hebrew) Український (Ukrainian) اردو (Urdu) Magyar (Hungarian) मानक हिन्दी (Hindi) Indonesia (Indonesian) Italiano (Italian) தமிழ் (Tamil) Türkçe (Turkish) తెలుగు (Telugu) ภาษาไทย (Thai) Tiếng Việt (Vietnamese [synonyms.net]

• Vomiting

  We have encountered a 3-month-old girl who has had vomiting and episodes of coma since birth. [hero.epa.gov]

  She showed vomiting; episodes of coma, starting shortly after birth; seizures; and a variable muscular tonicity.1 During these comatose states the concentration of blood ammonia would rise up to 500μg/100 ml and 560μg/100 ml. [jamanetwork.com]

  Clinical findings in LPI patients include: vomiting, diarrhea, failure to thrive, hepatosplenomegaly, bone marrow abnormalities, osteoporosis, episodes of coma, mental retardation, altered immune response, chronic renal disease and lung involvement, mainly [humpath.com]

  The affected child was an 11-year old girl, who was diagnosed with LPI at 2-years of age, following early signs of protein intolerance, including vomiting, diarrhea, selective aversion, and poor growth. [cags.org.ae]

  When symptoms of LPI appear they encompass neurodigestive signs and include poor feeding and frequent episodes of vomiting and diarrhea. Both of these digestive issues combine to result in hypotonia and poor growth. [themedicalbiochemistrypage.org]

• Nausea

  Side effects may include nausea, abdominal pain and diarrhea [6]. [nutrientsreview.com]

  However, at high levels, histamine may trigger nausea, diarrhea, heart palpitations and dilation of blood vessels may cause a severe headache. [power2practice.com]

  Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typically experienced after ingesting protein. [ghr.nlm.nih.gov]

  Symptoms of hyperammonemia may include chronic fatigue, headache, irritability, occasional diarrhea or nausea, lack of concentration, mental confusion, and intolerance to various foods, particularly high-protein foods. [springboard4health.com]

• Myopathy

  Selenium deficiency can lead to myocardiopathy and myopathy [ 41 ]. Targeted nutritional monitoring is therefore essential. A secondary urea cycle disorder with hyperammonemia has been well described in LPI. [ojrd.biomedcentral.com]

• Stupor

  Statistics Viewed 16455 Printed 435 Emailed 8 PDF Downloaded 179 Comments such as organic acidemias, urea cycle disorders, conditions resulting in recurrent hypoglycemia and fatty acid oxidation defects account for the majority of cases of recurrent stupor [neurologyindia.com]

  […] degeneration cirrhosis anemia thrombocytopenia osteoporosis protein malnutrition protein intolerance failure to thrive retarded physical development diarrhea malabsorption hepatomegaly (enlarged liver) vomiting liver cirrhosis mental retardation attacks of stupor [humpath.com]

  Recurrent stupor due to lysinuric protein intolerance. Neurol India. 2005;53:333-4. [indianpediatrics.net]

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]

Lysinuric protein intolerance: mechanisms of pathophysiology. Mol Genet Metab. 2004 Apr;81 Suppl 1:S27-37. Review. Citation on PubMed Sperandeo MP, Andria G, Sebastio G. [medlineplus.gov]

PMID: 10080182 Lysinuric protein intolerance: mechanisms of pathophysiology. Palacín M, Bertran J, Chillarón J, Estévez R, Zorzano A. Palacín M, et al. Mol Genet Metab. 2004 Apr;81 Suppl 1:S27-37. doi: 10.1016/j.ymgme.2003.11.015. [pubmed.ncbi.nlm.nih.gov]

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

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]