LPI
MCID: LYS003
MIFTS: 55

Lysinuric Protein Intolerance (LPI) malady

Metabolic category

Summaries for Lysinuric Protein Intolerance

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Lysinuric protein intolerance is a metabolic disorder caused by the body's inability to digest and use the amino acids lysine, arginine, and ornithine. because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, individuals experience nausea and vomiting after ingesting protein. other features associated with protein intolerance may also occur, including short stature, muscle weakness, impaired immune function, and osteoporosis. a lung disorder called pulmonary alveolar proteinosis may develop in some individuals, as can end-stage renal disease, coma and intellectual disability. symptoms usually develop after infants are weaned and begin to eat solid foods. lysinuric protein intolerance is caused by mutations in the slc7a7 gene. it is inherited in an autosomal recessive manner. last updated: 11/15/2010

MalaCards: Lysinuric Protein Intolerance, also known as LPI, is related to urea cycle disorder and orotic aciduria. An important gene associated with Lysinuric Protein Intolerance is SLC7A7 (solute carrier family 7 (amino acid transporter light chain, y+L system), member 7), and among its related pathways are Alanine and aspartate metabolism and Alanine, aspartate and glutamate metabolism. The compounds argininosuccinic acid and n-acetylglutamate have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and kidney, and related mouse phenotypes are growth/size and hematopoietic system.

Genetics Home Reference:21 Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. 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.

Wikipedia:64 Lysinuric protein intolerance (LPI), also called hyperdibasic aminoaciduria type 2,cationic... more...

Description from OMIM:47 222700

GeneReviews summary for lpi

Aliases & Classifications for Lysinuric Protein Intolerance

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic


Characteristics (Orphanet epidemiological data):

49
lysinuric protein intolerance:
Age of onset: Neonatal/infancy


Aliases & Descriptions:

lysinuric protein intolerance 19 43 20 22 21 47 45 49 61
lpi 43 21 49
lpi - lysinuric protein intolerance 21
hyperdibasic aminoaciduria type 2 49
hyperdibasic aminoaciduria 21
dibasicamino aciduria ii 43
cationic aminoaciduria 19
congenital lysinuria 21


External Ids:

OMIM47 222700
ICD10 via Orphanet26 E72.0
SNOMED-CT via Orphanet58 303852004
UMLS via Orphanet62 C0268647

Related Diseases for Lysinuric Protein Intolerance

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Lysinuric Protein Intolerance via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1urea cycle disorder30.4ASS1, ASL
2orotic aciduria30.3ASL, ASS1, OTC
3cystinuria30.3SLC3A1, SLC3A2, SLC7A7, OTC
4protein c deficiency10.6
5osteoporosis10.6
6protein r deficiency10.6
7systemic lupus erythematosus10.5
8pulmonary alveolar proteinosis10.5
9protein s deficiency10.5
10hyperdibasic aminoaciduria type 110.5
11hemophagocytic lymphohistiocytosis10.4
12gyrate atrophy10.3
13fanconi syndrome10.3
14celiac disease10.3
15glucose intolerance10.3
16dibasic aminoaciduria 210.3
17growth hormone deficiency10.3
18short stature10.3
19ornithine carbamoyltransferase deficiency10.0OTC
20aminoaciduria10.0SLC3A1
21hyperlysinemia10.0OTC
22tuberculosis10.0SFTPD
23pyruvate kinase deficiency10.0G6PD
24pneumonia10.0SFTPD
25reye syndrome10.0OTC
26propionic acidemia10.0ASS1, OTC
27argininosuccinic aciduria10.0OTC, ASL
28carbamoyl phosphate synthetase i deficiency disease10.0OTC, ASS1
29citrullinemia10.0OTC, ASS1, ASL
30hyperargininemia10.0OTC, ASS1, ASL
31maple syrup urine disease10.0OTC
32phenylketonuria10.0G6PD, SLC7A5, OTC
33chronic granulomatous disease10.0G6PD, OTC
34hyperammonemia multi-gene panels10.0ASL, ASS1, OTC, SLC7A7
35hemoglobinopathy10.0G6PD, EPO
36microcytic anemia10.0G6PD, EPO
37beta thalassemia10.0EPO, G6PD
38metabolic syndrome x10.0G6PD, SLC3A1, OTC, ASS1
39hemorrhagic thrombocythemia10.0EPO, G6PD
40iron metabolism disease10.0G6PD, EPO
41chronic myeloid leukemia10.0ASS1, EPO, G6PD
42leukemia10.0ASS1, OTC, EPO, TRA

Graphical network of the top 20 diseases related to Lysinuric Protein Intolerance:



Diseases related to lysinuric protein intolerance

Clinical Features for Lysinuric Protein Intolerance

Sources:
47OMIM
See all sources

Clinical features from OMIM:

222700

Clinical synopsis from OMIM:

222700

Drugs & Therapeutics for Lysinuric Protein Intolerance

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Lysinuric Protein Intolerance

Drug clinical trials:

Search ClinicalTrials for Lysinuric Protein Intolerance

Search NIH Clinical Center for Lysinuric Protein Intolerance

Search CenterWatch for Lysinuric Protein Intolerance

Genetic Tests for Lysinuric Protein Intolerance

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Lysinuric Protein Intolerance:

id Genetic test Affiliating Genes
1 Lysinuric Protein Intolerance20 22 SLC7A7

Anatomical Context for Lysinuric Protein Intolerance

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Lysinuric Protein Intolerance:

33
Skin, Liver, Kidney, Lung, Bone marrow, Whole blood, Heart, Breast, Myeloid, Monocytes, T cells, B lymphoblasts, B cells, Endothelial, Fetal liver, Fetal lung

Animal Models for Lysinuric Protein Intolerance or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Lysinuric Protein Intolerance:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.8G6PD, SLC3A1, SLC3A2, SLC7A7, OTC, ASS1
2MP:00053977.6SFTPD, G6PD, EPO, SLC3A2, SLC7A7, OTC
3MP:00053767.4ASL, SFTPD, G6PD, EPO, SLC3A1, SLC3A2
4MP:00107687.3SFTPD, G6PD, EPO, SLC7A5, SLC3A2, SLC7A7

Publications for Lysinuric Protein Intolerance

Sources:
51PubMed
See all sources

Articles related to Lysinuric Protein Intolerance:

(show top 50)    (show all 136)
idTitleAuthorsYear
1
Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance. (23358709)
2013
2
Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance. (24142278)
2013
3
Pregnancy delivery and puerperium in a patient with lysinuric protein intolerance--a case report. (24032281)
2013
4
Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance. (22325938)
2012
5
Growth hormone therapy is safe and effective in patients with lysinuric protein intolerance. (23430827)
2011
6
Early-onset hepatic fibrosis in lysinuric protein intolerance. (21716135)
2011
7
Combined hyperlipidemia in patients with lysinuric protein intolerance. (20177788)
2010
8
Breast milk and gene delivery: is lysinuric protein intolerance an exemplar? (20674423)
2010
9
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat. (18716612)
2009
10
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. (18846671)
2008
11
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. (18846673)
2008
12
Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance. (17517249)
2007
13
Impaired portal circulation resulting from L-arginine deficiency in patients with lysinuric protein intolerance. (16966712)
2006
14
Treatment of severe osteoporosis with alendronate in a patient with lysinuric protein intolerance. (16868861)
2006
15
Recurrent stupor due to lysinuric protein intolerance. (16230804)
2005
16
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. (15289783)
2004
17
A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect. The Mass Screening Group. (10980538)
2000
18
Effect of lysine infusion on urea cycle in lysinuric protein intolerance. (10831173)
2000
19
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. (10631139)
2000
20
Treatment of hemophagocytic lymphohistiocytosis with cyclosporin A and steroids in a boy with lysinuric protein intolerance. (10636991)
2000
21
Functional analysis of novel mutations in y+LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). (10655553)
2000
22
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. (10080183)
1999
23
Reduced nitric oxide production by L-arginine deficiency in lysinuric protein intolerance exacerbates intravascular coagulation. (10484053)
1999
24
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report. (10451527)
1999
25
B and T cell immunity in patients with lysinuric protein intolerance. (10361230)
1999
26
Complications of lysinuric protein intolerance must be treated with immunosuppressive drugs. (9762605)
1998
27
Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance. (9829974)
1998
28
Bone marrow hemophagocytosis and immunological abnormalities in a patient with lysinuric protein intolerance. (9352748)
1997
29
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods. (8564125)
1996
30
Lysinuric protein intolerance presenting as coma in a middle-aged man. (8987436)
1996
31
Lysinuric protein intolerance with thymic hypoplasia. (8803785)
1996
32
Immunological abnormality in patients with lysinuric protein intolerance. (8747863)
1995
33
Pulmonary manifestations in lysinuric protein intolerance. (8404187)
1993
34
Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance. (8319714)
1993
35
Osteoporosis in lysinuric protein intolerance. (8412005)
1993
36
Familial lysinuric protein intolerance presenting as coma in two adult siblings. (2732736)
1989
37
Homocitrullinuria and homoargininuria in lysinuric protein intolerance. (2474087)
1989
38
Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytes. (3143662)
1988
39
Growth hormone studies in lysinuric protein intolerance. (6428892)
1984
40
Hyperammonemia in lysinuric protein intolerance. (6424086)
1984
41
Oral administration of arginine and citrulline in the treatment of lysinuric protein intolerance. (6719441)
1984
42
Renal transport of lysine and arginine in lysinuric protein intolerance. (6819142)
1982
43
Changes in peripheral blood cells and serum ferritin in lysinuric protein intolerance. (6782826)
1980
44
Lysinuric protein intolerance. (6107616)
1980
45
Lysinuric protein intolerance. (6106816)
1980
46
Basolateral-membrane transport defect for lysine in lysinuric protein intolerance. (6104037)
1980
47
Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine. (6777479)
1980
48
Prolonged coma and isoelectric electroencephalogram in a child with lysinuric protein intolerance. (874670)
1977
49
Defective metabolic clearance of plasma arginine and ornithine in lysinuric protein intolerance. (4851276)
1974
50
Leukocyte and liver glutaminase in lysinuric protein intolerance. (4648974)
1972

Genetic Variations for Lysinuric Protein Intolerance

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Lysinuric Protein Intolerance:

63 (show all 18)
id Symbol AA change Variation SNP ID
1SLC7A7p.Gly54ValVAR_010261
2SLC7A7p.Leu334ArgVAR_010262
3SLC7A7p.Gly338AspVAR_010999
4SLC7A7p.Ser386ArgVAR_011000
5SLC7A7p.Met50LysVAR_030595
6SLC7A7p.Thr188IleVAR_030596
7SLC7A7p.Ser238PheVAR_030597
8SLC7A7p.Arg333MetVAR_030598
9SLC7A7p.Ser489ProVAR_030599
10SLC7A7p.Thr5IleVAR_039092
11SLC7A7p.Ser53LeuVAR_039094
12SLC7A7p.Leu124ProVAR_039096
13SLC7A7p.Ala140ProVAR_039097
14SLC7A7p.Phe152LeuVAR_039098
15SLC7A7p.Lys191GluVAR_039100
16SLC7A7p.Glu251AspVAR_039101
17SLC7A7p.Leu261ProVAR_039102
18SLC7A7p.Asn365TyrVAR_039103

Expression for genes affiliated with Lysinuric Protein Intolerance

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Lysinuric Protein Intolerance

Search GEO for disease gene expression data for Lysinuric Protein Intolerance.

Pathways for genes affiliated with Lysinuric Protein Intolerance

Sources:
38NCBI BioSystems Database, 30KEGG, 54Reactome, 12EMD Millipore, 4Cell Signaling Technology
See all sources

Pathways related to Lysinuric Protein Intolerance according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0ASL, ASS1
210.0ASL, ASS1
3
Hide members
10.0ASL, ASS1
4
Hide members
9.7ASL, ASS1, OTC
59.7ASL, ASS1, OTC
6
Hide members
9.7OTC, ASS1, ASL
7
Hide members
9.4ASL, ASS1, OTC, G6PD
89.3SLC3A2, SLC7A6
99.3G6PD, SLC7A5, SLC3A2
108.5SLC7A8, SLC3A1, SLC3A2, SLC7A7
11
Hide members
8.0SLC7A5, SLC7A6, SLC7A8, SLC3A2, SLC7A7
128.0SLC7A5, SLC7A6, SLC7A8, SLC3A2, SLC7A7
138.0SLC7A5, SLC7A6, SLC7A8, SLC3A2, SLC7A7
14
Hide members
7.3SLC7A5, SLC7A6, SLC7A8, SLC3A1, SLC3A2, SLC7A7
15
Hide members
7.3SLC7A2, SLC7A7, SLC3A2, SLC3A1, SLC7A8, SLC7A6

Compounds for genes affiliated with Lysinuric Protein Intolerance

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Lysinuric Protein Intolerance according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
1argininosuccinic acid45 2411.3ASL, ASS1
2n-acetylglutamate4510.3ASL, OTC
3guanidinoacetate4510.3ASL, ASS1
4delta(1)pyrroline-5-carboxylate4510.2ASS1, OTC
5l-citrulline29 1111.2ASS1, OTC
6sodium benzoate50 211.1ASL, ASS1, OTC
7phenylacetic acid50 45 2412.1OTC, ASS1, ASL
8carbamoyl phosphate4510.1OTC, ASS1, ASL
9ammonium4510.1OTC, ASS1, ASL
10citrulline45 2411.1ASL, ASS1, OTC
11l-ornithine29 1111.0SLC7A2, OTC
1223-diphosphoglycerate4510.0G6PD, EPO
13malate4510.0G6PD, OTC, ASL
14zinc protoporphyrin459.9G6PD, EPO
15fumarate45 1110.9ASL, EPO, G6PD
16bamhi459.8OTC, TRA
17phenylbutyrate459.8EPO, OTC
182-aminobicyclo(2,2,1)heptane-2-carboxylic acid459.8SLC7A8, SLC7A5
19S-(Methylmercury)-L-Cysteine119.8SLC7A5, SLC7A8
20carnitine459.7OTC, EPO, G6PD
21urea45 11 2411.6ASL, ASS1, OTC, EPO
22pyruvate459.6ASS1, OTC, G6PD
23glutamine459.4ASL, OTC, SLC7A5, G6PD, SFTPD
24L-Leucine11 2410.3SLC7A8, SLC3A2
25melphalan45 1110.3SLC7A8, SLC7A5, EPO
26aspartate459.3G6PD, EPO, OTC, ASS1, ASL
27lactate459.2SFTPD, G6PD, EPO, OTC
28L-Cysteine11 2410.1SLC7A8, SLC3A2
29cystine459.1SLC3A2, SLC3A1, SLC7A8
30l-amino acid459.1SLC7A8, SLC7A5
31l-arginine29 11 2411.0SLC7A6, SLC3A2, SLC7A7, ASS1, ASL
32creatinine459.0G6PD, EPO, SLC3A1, OTC, ASS1, ASL
33glutamate459.0ASL, ASS1, OTC, SLC3A2, SLC3A1
34nitric oxide45 11 2411.0SFTPD, SLC3A1, SLC7A2, OTC, ASS1, ASL
35phenylalanine458.8SLC3A2, SLC3A1, SLC7A8, SLC7A5
36ornithine45 249.8ASL, ASS1, OTC, SLC7A7, SLC3A1, SLC7A6
37glucose458.6SFTPD, G6PD, SLC7A5, SLC7A6, OTC
38alanine458.4SLC7A5, SLC7A8, SLC3A1, SLC3A2, ASS1
39cysteine458.1SLC3A2, SLC3A1, SLC7A8, SLC7A5, SFTPD
40sodium45 248.9SLC7A5, SLC7A6, SLC7A8, SLC3A1, SLC3A2, SLC7A7
41arginine457.8SLC7A5, SLC7A6, SLC3A1, SLC3A2, SLC7A7, SLC7A2
42leucine457.5SFTPD, SLC7A5, SLC7A6, SLC7A8, SLC3A1, SLC3A2

GO Terms for genes affiliated with Lysinuric Protein Intolerance

Sources:
16Gene Ontology
See all sources

Cellular components related to Lysinuric Protein Intolerance according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:0163238.6SLC7A7, SLC7A8, SLC7A6
2integral to plasma membraneGO:0058878.2SLC7A2, SLC7A7, SLC3A1, SLC7A8, SLC7A6

Biological processes related to Lysinuric Protein Intolerance according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:00652610.0OTC, ASS1
2urea cycleGO:0000509.8ASL, ASS1, OTC
3cellular nitrogen compound metabolic processGO:0346419.7ASL, ASS1, OTC
4erythrocyte maturationGO:0432499.4EPO, G6PD
5neutral amino acid transportGO:0158049.3SLC7A5, SLC7A8
6transportGO:0068108.4SLC7A5, SLC7A6, SLC7A8, SLC7A7, SLC7A2
7leukocyte migrationGO:0509008.2SLC7A5, SLC7A6, SLC7A8, SLC3A2, SLC7A7
8cellular amino acid metabolic processGO:0065208.2SLC7A5, SLC7A6, SLC7A8, SLC3A1, SLC7A7, SLC7A2
9blood coagulationGO:0075968.0SLC7A7, SLC3A2, SLC7A8, SLC7A6, SLC7A5
10amino acid transportGO:0068657.6SLC7A2, SLC7A5, SLC7A6, SLC7A8, SLC3A1, SLC3A2
11ion transportGO:0068117.5SLC7A5, SLC7A6, SLC7A8, SLC3A1, SLC3A2, SLC7A7
12transmembrane transportGO:0550857.5SLC7A5, SLC7A6, SLC7A8, SLC3A1, SLC3A2, SLC7A7

Molecular functions related to Lysinuric Protein Intolerance according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1basic amino acid transmembrane transporter activityGO:0151749.8SLC3A1, SLC7A2
2cation bindingGO:0431699.6SLC3A1, SLC3A2
3peptide antigen bindingGO:0426059.4SLC7A8, SLC7A5
4L-amino acid transmembrane transporter activityGO:0151799.3SLC7A8, SLC7A5
5catalytic activityGO:0038248.9SLC3A2, SLC3A1, NEU2
6neutral amino acid transmembrane transporter activityGO:0151758.9SLC7A5, SLC7A8, SLC3A2
7amino acid transmembrane transporter activityGO:0151718.5SLC7A7, SLC3A1, SLC7A8, SLC7A6, SLC7A5

Products for genes affiliated with Lysinuric Protein Intolerance

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lysinuric Protein Intolerance

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet