A Intolerância à Proteína Lisinúrica (IPL) é uma condição genética muito rara que afeta vários sistemas do corpo, causada por um problema na forma como o organismo processa os aminoácidos.
Introdução
O que você precisa saber de cara
A Intolerância à Proteína Lisinúrica (IPL) é uma condição genética muito rara que afeta vários sistemas do corpo, causada por um problema na forma como o organismo processa os aminoácidos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 38 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 100 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Heterodimer with SLC3A2, that functions as an antiporter which operates as an efflux route by exporting cationic amino acids from inside the cells in exchange with neutral amino acids plus sodium ions and may participate in nitric oxide synthesis via the transport of L-arginine (PubMed:10080182, PubMed:10655553, PubMed:14603368, PubMed:15756301, PubMed:15776427, PubMed:17329401, PubMed:9829974, PubMed:9878049). Also mediates arginine transport in non-polarized cells, such as monocytes, and is es
Basolateral cell membrane
Lysinuric protein intolerance
A metabolic disorder characterized by increased renal excretion of cationic amino acid (CAA), reduced CAA absorption from intestine, and orotic aciduria. On a normal diet, LPI patients present poor feeding, vomiting, diarrhea, episodes of hyperammoniaemic coma and growth retardation. Hepatosplenomegaly, osteoporosis and a life-threatening pulmonary involvement (alveolar proteinosis) are also seen. Biochemically LPI is characterized by defective transport of dibasic amino acids at the basolateral membrane of epithelial cells in kidney and intestine.
Variantes genéticas (ClinVar)
224 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 809 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
3 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Intolerância à proteína lisinúrica
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
2 ensaios clínicos encontrados.
Publicações mais relevantes
Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
Lysinuric protein intolerance: Allogeneic peripheral blood stem cell transplantation for an inborn error of metabolism and immunity.
Lysinuric protein intolerance (LPI) is not only an inborn metabolic disease with gastrointestinal, hepatic, renal and lung involvement but also an inborn error of immunity potentially leading to life-threatening autoimmune disorders (e.g. systemic lupus erythematosus (SLE), hemophagocytic lymphohistiocystosis (HLH)). Recently, one case of allogeneic hematopoietic stem cell transplantation (allo-HSCT) reversing SLE and HLH in a LPI patient was reported. We present 21 years of follow-up in a second LPI patient having undergone allogeneic peripheral blood stem cell transplantation (allo-PBSCT) for HLH.
Brain fog and protein logs: unravelling encephalopathy in lysinuric protein intolerance with rare mutation and expanded phenotypic spectrum.
Lysinuric protein intolerance (LPI) is an autosomal recessive disorder caused by variants in the SLC7A7 gene, leading to impaired transport of dibasic amino acids across intestinal and renal membranes. This results in postprandial hyperammonaemia due to deficiencies in lysine, arginine and ornithine, crucial substrates for the urea cycle. It commonly presents in infancy with recurrent vomiting, diarrhoea and encephalopathy. Diagnosis involves molecular genetic testing for the SLC7A7 gene variant. In this case, the rarity of the neuroimaging findings and the identification of an ultra-rare mutation contribute to the expanding clinical and genetic spectrum of LPI. Despite therapeutic advancements, the prognosis of LPI hinges on the progression of pulmonary and renal complications, underscoring the importance of comprehensive care and monitoring.
Structural basis for the substrate recognition and transport mechanism of the human y+LAT1-4F2hc transporter complex.
Heteromeric amino acid transporters (HATs), including y+LAT1-4F2hc complex, are responsible for transporting amino acids across membranes, and mutations in y+LAT1 cause lysinuric protein intolerance (LPI), a hereditary disorder characterized by defective cationic amino acid transport. The relationship between LPI and specific mutations in y+LAT1 has yet to be fully understood. In this study, we characterized the function of y+LAT1-4F2hc complex in mammalian cells and determined the cryo-EM structures of the human y+LAT1-4F2hc complex in two distinct conformations: the apo state in an inward-open conformation and the native substrate-bound state in an outward-open conformation. Structural analysis suggests that Asp243 in y+LAT1 plays a crucial role in coordination with sodium ion and substrate selectivity. Molecular dynamic (MD) simulations further revealed the different transport mechanism of cationic amino acids and neutral amino acids. These results provide important insights into the mechanisms of the substrate binding and working cycle of HATs.
The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance.
Lysinuric protein intolerance (LPI) is an inborn metabolic error caused by cationic amino acid transport defects. The disease has a significant degree of phenotypic variation, with no confirmed genotype-phenotype correlation. Because it presents with symptoms similar to far more common diseases, the diagnosis is often missed, resulting in increased morbidity and mortality. This case series describes three examples of LPI with pulmonary, neurological, and immunological manifestations, emphasising the importance of keeping this disorder on the differential list. Appropriate metabolic and genetic testing is important in providing the correct diagnosis and timely care in such cases.
Publicações recentes
Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
Lysinuric protein intolerance: Allogeneic peripheral blood stem cell transplantation for an inborn error of metabolism and immunity.
Brain fog and protein logs: unravelling encephalopathy in lysinuric protein intolerance with rare mutation and expanded phenotypic spectrum.
Lysinuric protein intolerance: Unusual clinical manifestations in a compound heterozygote with a novel pathogenic variant.
Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
📚 EuropePMC215 artigos no totalmostrando 93
Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
Orphanet journal of rare diseasesLysinuric protein intolerance: Allogeneic peripheral blood stem cell transplantation for an inborn error of metabolism and immunity.
Molecular genetics and metabolismBrain fog and protein logs: unravelling encephalopathy in lysinuric protein intolerance with rare mutation and expanded phenotypic spectrum.
BMJ case reportsLysinuric protein intolerance: Unusual clinical manifestations in a compound heterozygote with a novel pathogenic variant.
Biochemistry and biophysics reportsMechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
Current research in physiologyLysinuric Protein Intolerance (LPI) Presenting with Macrocephaly, Hepatosplenomegaly and Myelosuppression.
Indian journal of pediatricsClinical, biochemical, and molecular findings in adults with hyperammonemia: A French bi-centric retrospective study.
Molecular genetics and metabolismDual pathogenic mechanisms in lysinuric protein intolerance: Interplay between hyperammonemia and cellular metabolic dysregulation in astrocyte injury.
Molecular genetics and metabolismStructural basis for the substrate recognition and transport mechanism of the human y+LAT1-4F2hc transporter complex.
Science advancesLysinuric protein intolerance associated Hemophagocytic Lymphohistiocytosis revealed by bone marrow atypical hemophagocytosis.
La Tunisie medicaleInterstitial Lung Disease in Lysinuric Protein Intolerance Diagnosed by a Transbronchial Lung Cryobiopsy.
Internal medicine (Tokyo, Japan)Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis.
Molecular medicine (Cambridge, Mass.)Outcomes of kidney transplantation in patients with lysinuric protein intolerance.
Clinical kidney journalN7-methyladenosine-induced SLC7A7 serves as a prognostic biomarker in pan-cancer and promotes CRC progression in colorectal cancer.
Scientific reportsRare genetic interstitial lung diseases: a pictorial essay.
European respiratory review : an official journal of the European Respiratory SocietyLysinuric Protein Intolerance: Not Only a Disorder for Pediatric Nephrologists - Case Report.
NephronDigital clubbing without hypoxia for lysinuric protein intolerance.
European journal of medical geneticsHemophagocytic Lymphohistiocytosis in Lysinuric Protein Intolerance.
Indian journal of pediatricsMembranoproliferative glomerulonephritis in a patient with lysinuric protein intolerance: lesson for the clinical nephrologist.
Journal of nephrologyLysinuric protein intolerance with novel mutations in solute carrier family 7A member 7 in a Chinese family.
Pediatric investigationWhole lung lavage and GM-CSF use for pulmonary alveolar proteinosis in an infant with lysinuric protein intolerance: a case report.
Italian journal of pediatricsThe Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance.
Indian journal of pediatricsA novel variant in a Chinese boy with lysinuric protein intolerance: A case report and literature review.
Heliyon[Enteral nutrition support for lysinuric protein intolerance: a case report and literature review].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsPostnatal outcome of children with antenatal colonic hyperechogenicity.
Prenatal diagnosisLysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings.
Molecular genetics and metabolism reportsInborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.
Disease models & mechanismsLysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman.
JIMD reportsLysinuric Protein Intolerance and Its Nutritional and Multisystemic Challenges in Pregnancy: A Case Report and Literature Review.
Journal of clinical medicineA complicated case of whole-lung lavage: a case report.
Frontiers in medicineLysinuric protein intolerance presenting as pancytopenia and splenomegaly mimicking acute leukaemia: a case report.
BMC pediatricsDelayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance.
Disease models & mechanismsPlasma calprotectin is extremely high in patients with lysinuric protein intolerance.
JIMD reportsNeurological and endocrinological involvement in neonatal lupus erythematosus: a retrospective study at a tertiary hospital in Eastern China.
Clinical rheumatologyPulmonary proteinosis and secondary hemophagocytic syndrome in a patient with lysinuric protein intolerance.
Polish archives of internal medicineReversal of SLE and hemophagocytic lymphohistiocytosis caused by lysinuric protein intolerance through allogeneic hematopoietic stem cell transplantation.
The Journal of allergy and clinical immunologyRare diseases presenting with hemophagocytic lymphohistiocytosis.
Pediatrics international : official journal of the Japan Pediatric Society[Pulmonary phenotypes of inborn errors of metabolism].
Revue des maladies respiratoiresImproving a Rare Metabolic Disorder Through Kidney Transplantation: A Case Report of a Patient With Lysinuric Protein Intolerance.
American journal of kidney diseases : the official journal of the National Kidney FoundationChildren with lysinuric protein intolerance: Experience from a lower middle income country.
World journal of clinical pediatricsA complication of lysinuric protein intolerance: Intermittent haemophagocytic lymphohistiocytosis.
Journal of paediatrics and child healthFamilial hemophagocytic lymphohistiocytosis syndrome due to lysinuric protein intolerance: a patient with a novel compound heterozygous pathogenic variant in SLC7A7.
International journal of hematologyClinicopathologic features of non-lupus membranous nephropathy in a pediatric population.
Pediatric nephrology (Berlin, Germany)The diagnostic challenge of mild citrulline elevation at newborn screening.
Molecular genetics and metabolismA surprising cause of proteinuria: Answers.
Pediatric nephrology (Berlin, Germany)Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
The Journal of clinical endocrinology and metabolismImmune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.
Frontiers in pediatricsThe utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis.
Journal of pediatric endocrinology & metabolism : JPEMLysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy.
Molecular genetics and metabolism reportsLysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis.
Translational science of rare diseasesMetabolic Serendipities of Expanded Newborn Screening.
GenesHeterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.
Clinical case reportsA global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance.
Human molecular geneticsCUGC for lysinuric protein intolerance (LPI).
European journal of human genetics : EJHGPropionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant.
Archivos argentinos de pediatriaAccurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.
Molecular genetics and metabolism reportsy+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance.
Journal of cellular and molecular medicineThe genetic landscape of the human solute carrier (SLC) transporter superfamily.
Human geneticsInducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease.
International journal of molecular sciencesLysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14.
Journal of human geneticsOverview of symptoms and treatment for lysinuric protein intolerance.
Journal of human geneticsPrioritization of SNPs in y+LAT-1 culpable of Lysinuric protein intolerance and their mutational impacts using protein-protein docking and molecular dynamics simulation studies.
Journal of cellular biochemistry[Clinical features of children with lysinuric protein intolerance and SLC7A7 gene mutation: an analysis of 3 cases].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsHyperammonemia in a case of herpes simplex and anti-N-methyl-d-aspartate receptor encephalitis.
Brain & developmentAnalysis of LPI-causing mutations on y+LAT1 function and localization.
Orphanet journal of rare diseasesSLC7A7/Y+LAT1, mutated in Lysinuric protein intolerance, has a significant role in regulating the inflammatory status of human macrophages.
Journal of biological regulators and homeostatic agents[Lysinuric protein intolerance with interstitial lung disease as the main manifestation].
Zhonghua er ke za zhi = Chinese journal of pediatricsAmino Acid Transport Across the Mammalian Intestine.
Comprehensive PhysiologyUrea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Orphanet journal of rare diseasesAbnormal coagulation and enhanced fibrinolysis due to lysinuric protein intolerance associates with bleeds and renal impairment.
Haemophilia : the official journal of the World Federation of HemophiliaDownregulation of SLC7A7 Triggers an Inflammatory Phenotype in Human Macrophages and Airway Epithelial Cells.
Frontiers in immunologySecondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
JIMD reportsA nine-month-old-boy with Atypical Hemophagocytic Lymphohistiocytosis.
Mediterranean journal of hematology and infectious diseasesNew mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance.
Pediatric pulmonologyCongenital Pulmonary Alveolar Proteinosis: From Birth to Ten-years of Age.
Indian journal of pediatricsRenal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.
Human pathologyUpdate on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
Orphanet journal of rare diseasesBiochemical and molecular characteristics of Malaysian patients with lysinuric protein intolerance.
The Malaysian journal of pathologyClinical and genetic features of lysinuric protein intolerance in Japan.
Pediatrics international : official journal of the Japan Pediatric SocietyInhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance.
JIMD reportsAn Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?
Journal of pediatric hematology/oncologyLysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy.
Indian pediatricsImbalance of plasma amino acids, metabolites and lipids in patients with lysinuric protein intolerance (LPI).
Metabolism: clinical and experimentalUnusual association between lysinuric protein intolerance and moyamoya vasculopathy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society1471 delTTCT a Common Mutation of Tunisian Patients with Lysinuric Protein Intolerance.
Clinical laboratoryRenal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance.
JIMD reportsDysfunction in macrophage toll-like receptor signaling caused by an inborn error of cationic amino acid transport.
Molecular immunologyUrine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI.
JIMD reportsPrognostic Factors and Long-Term Outcome in 52 Turkish Children With Hemophagocytic Lymphohistiocytosis.
Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care SocietiesFanconi syndrome with lysinuric protein intolerance.
Clinical kidney journalLysine nutrition in swine and the related monogastric animals: muscle protein biosynthesis and beyond.
SpringerPlusGrowth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature.
JIMD reportsLysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature.
Molecular genetics and metabolism reportsAssociações
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
- Lysinuric protein intolerance: Allogeneic peripheral blood stem cell transplantation for an inborn error of metabolism and immunity.
- Brain fog and protein logs: unravelling encephalopathy in lysinuric protein intolerance with rare mutation and expanded phenotypic spectrum.
- Structural basis for the substrate recognition and transport mechanism of the human y+LAT1-4F2hc transporter complex.
- The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance.
- Lysinuric protein intolerance: Unusual clinical manifestations in a compound heterozygote with a novel pathogenic variant.
- Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:470(Orphanet)
- OMIM OMIM:222700(OMIM)
- MONDO:0009109(MONDO)
- GARD:3335(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3153671(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
