LPI
MCID: LYS003
MIFTS: 64

Lysinuric Protein Intolerance (LPI) malady

Metabolic diseases category

Summaries for Lysinuric Protein Intolerance

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 cystinuria. 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 lung, kidney and bone marrow, 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:63 Lysinuric protein intolerance (LPI), also called hyperdibasic aminoaciduria type 2,cationic... more...

Description from OMIM:46 222700

GeneReviews summary for lpi

Aliases & Classifications for Lysinuric Protein Intolerance

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Characteristics (Orphanet epidemiological data):

48
lysinuric protein intolerance:
Age of onset: Neonatal/infancy


Aliases & Descriptions:

lysinuric protein intolerance 19 42 20 22 21 46 44 48 60
lpi 42 21 48
lpi - lysinuric protein intolerance 21
hyperdibasic aminoaciduria type 2 48
hyperdibasic aminoaciduria 21
dibasicamino aciduria ii 42
cationic aminoaciduria 19
congenital lysinuria 21


External Ids:

OMIM46 222700
ICD10 via Orphanet26 E72.0
SNOMED-CT via Orphanet57 303852004
UMLS via Orphanet61 C0268647

Related Diseases for Lysinuric Protein Intolerance

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17GeneCards, 18GeneDecks
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Diseases related to Lysinuric Protein Intolerance via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1urea cycle disorder30.3ASS1, ASL
2cystinuria30.3SLC3A1, SLC3A2, SLC7A7, OTC
3osteoporosis10.5
4systemic lupus erythematosus10.5
5pulmonary alveolar proteinosis10.5
6lupus erythematosus10.5
7hyperdibasic aminoaciduria type 110.5
8hemophagocytic lymphohistiocytosis10.4
9interstitial lung disease10.4
10gyrate atrophy10.2
11fanconi syndrome10.2
12celiac disease10.2
13glomerulonephritis10.2
14hepatitis10.2
15dibasic aminoaciduria 210.2
16ornithine carbamoyltransferase deficiency10.0OTC
17aminoaciduria10.0SLC3A1
18hyperlysinemia10.0OTC
19tuberculosis10.0SFTPD
20pyruvate kinase deficiency10.0G6PD
21pneumonia10.0SFTPD
22reye syndrome10.0OTC
23propionic acidemia10.0ASS1, OTC
24argininosuccinic aciduria10.0OTC, ASL
25carbamoyl phosphate synthetase i deficiency disease10.0OTC, ASS1
26orotic aciduria10.0ASL, ASS1, OTC
27citrullinemia10.0OTC, ASS1, ASL
28hyperargininemia10.0OTC, ASS1, ASL
29maple syrup urine disease10.0OTC
30phenylketonuria10.0G6PD, SLC7A5, OTC
31chronic granulomatous disease10.0G6PD, OTC
32hyperammonemia multi-gene panels10.0ASL, ASS1, OTC, SLC7A7
33hemoglobinopathy10.0G6PD, EPO
34microcytic anemia10.0G6PD, EPO
35beta thalassemia10.0EPO, G6PD
36metabolic syndrome x10.0G6PD, SLC3A1, OTC, ASS1
37hemorrhagic thrombocythemia10.0EPO, G6PD
38iron metabolism disease10.0G6PD, EPO
39chronic myeloid leukemia10.0ASS1, EPO, G6PD
40leukemia10.0ASS1, 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

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46OMIM
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Clinical features from OMIM:

222700

Clinical synopsis from OMIM:

222700

Drugs & Therapeutics for Lysinuric Protein Intolerance

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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Genetic tests related to Lysinuric Protein Intolerance:

id Genetic test Affiliating Genes
1 Lysinuric Protein Intolerance20 22 SLC7A7

Anatomical Context for Lysinuric Protein Intolerance

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32MalaCards
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MalaCards organs/tissues related to Lysinuric Protein Intolerance:

32
Lung, Kidney, Bone marrow, Bone, T cells, Liver, Monocytes, Myeloid, Skin, Breast, Heart, Endothelial

Animal Models for Lysinuric Protein Intolerance or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Lysinuric Protein Intolerance:

36
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

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50PubMed
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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
Early-onset hepatic fibrosis in lysinuric protein intolerance. (21716135)
2011
3
First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intolerance. (23430825)
2011
4
In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages. (21110863)
2010
5
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat. (18716612)
2009
6
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. (17764084)
2008
7
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. (18846668)
2008
8
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. (18846672)
2008
9
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. (18846673)
2008
10
Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance. (17517249)
2007
11
Haemophagocytosis by myeloid precursors in lysinuric protein intolerance. (17474972)
2007
12
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. (15776427)
2005
13
Increased NO production in lysinuric protein intolerance. (15877200)
2005
14
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. (15289783)
2004
15
Vascular endothelial dysfunction resulting from L-arginine deficiency in a patient with lysinuric protein intolerance. (11544277)
2001
16
Effect of lysine infusion on urea cycle in lysinuric protein intolerance. (10831173)
2000
17
Treatment of hemophagocytic lymphohistiocytosis with cyclosporin A and steroids in a boy with lysinuric protein intolerance. (10636991)
2000
18
Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11. (10364825)
1999
19
Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance. (9931537)
1999
20
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report. (10451527)
1999
21
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. (10080182)
1999
22
Lysinuric protein intolerance masquerading as celiac disease: a case report. (9470018)
1998
23
Intravenous immune globulin in lysinuric protein intolerance. (9584260)
1998
24
Varicella and varicella immunity in patients with lysinuric protein intolerance. (9584261)
1998
25
Necropsy findings in lysinuric protein intolerance. (8655715)
1996
26
Lysinuric protein intolerance with thymic hypoplasia. (8803785)
1996
27
Interstitial lung disease in lysinuric protein intolerance. (8151487)
1994
28
Osteoporosis in lysinuric protein intolerance. (8412005)
1993
29
Lysinuric protein intolerance presenting deficiency of argininosuccinate synthetase. (1568044)
1992
30
Familial lysinuric protein intolerance presenting as coma in two adult siblings. (2732736)
1989
31
Homocitrullinuria and homoargininuria in lysinuric protein intolerance. (2474087)
1989
32
Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytes. (3143662)
1988
33
Carnitine deficiency in lysinuric protein intolerance: lysine-sparing effect of carnitine. (3126568)
1987
34
Waste nitrogen excretion via amino acid acylation: benzoate and phenylacetate in lysinuric protein intolerance. (3099249)
1986
35
Chemical pathology of diamino acid deficiency: considerations in relation to lysinuric protein intolerance. (3939496)
1985
36
Growth hormone studies in lysinuric protein intolerance. (6428892)
1984
37
Oral administration of arginine and citrulline in the treatment of lysinuric protein intolerance. (6719441)
1984
38
Oral administration of epsilon N-acetyllysine and homocitrulline in lysinuric protein intolerance. (6402575)
1983
39
Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates. (7254935)
1981
40
Changes in peripheral blood cells and serum ferritin in lysinuric protein intolerance. (6782826)
1980
41
Lysinuric protein intolerance. (6107616)
1980
42
Lysinuric protein intolerance. (6106816)
1980
43
Lysine fluxes across the jejunal epithelium in lysinuric protein intolerance. (6773985)
1980
44
Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine. (6777479)
1980
45
Lysinuric protein intolerance. (869490)
1977
46
Prolonged coma and isoelectric electroencephalogram in a child with lysinuric protein intolerance. (874670)
1977
47
Renal handling of diamino acids in lysinuric protein intolerance. (4600043)
1974
48
Lysinuric protein intolerance. (4220398)
1974
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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Lysinuric Protein Intolerance:

62 (show all 18)
id Symbol AA change Variation ID 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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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37NCBI BioSystems Database, 29KEGG, 53Reactome, 12EMD Millipore, 4Cell Signaling Technology
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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

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 49PharmGKB, 2BitterDB
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Compounds related to Lysinuric Protein Intolerance according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
1argininosuccinic acid44 2411.3ASL, ASS1
2n-acetylglutamate4410.3ASL, OTC
3guanidinoacetate4410.3ASL, ASS1
4delta(1)pyrroline-5-carboxylate4410.2ASS1, OTC
5l-citrulline28 1111.2ASS1, OTC
6sodium benzoate49 211.1ASL, ASS1, OTC
7phenylacetic acid49 44 2412.1OTC, ASS1, ASL
8carbamoyl phosphate4410.1OTC, ASS1, ASL
9ammonium4410.1OTC, ASS1, ASL
10citrulline44 2411.1ASL, ASS1, OTC
11l-ornithine28 1111.0SLC7A2, OTC
1223-diphosphoglycerate4410.0G6PD, EPO
13malate4410.0G6PD, OTC, ASL
14zinc protoporphyrin449.9G6PD, EPO
15fumarate44 1110.9ASL, EPO, G6PD
16bamhi449.8OTC, TRA
17phenylbutyrate449.8EPO, OTC
182-aminobicyclo(2,2,1)heptane-2-carboxylic acid449.8SLC7A8, SLC7A5
19S-(Methylmercury)-L-Cysteine119.8SLC7A5, SLC7A8
20carnitine449.7OTC, EPO, G6PD
21urea44 11 2411.6ASL, ASS1, OTC, EPO
22pyruvate449.6ASS1, OTC, G6PD
23glutamine449.4ASL, OTC, SLC7A5, G6PD, SFTPD
24L-Leucine11 2410.3SLC7A8, SLC3A2
25melphalan44 1110.3SLC7A8, SLC7A5, EPO
26aspartate449.3G6PD, EPO, OTC, ASS1, ASL
27lactate449.2SFTPD, G6PD, EPO, OTC
28L-Cysteine11 2410.1SLC7A8, SLC3A2
29cystine449.1SLC3A2, SLC3A1, SLC7A8
30l-amino acid449.1SLC7A8, SLC7A5
31l-arginine28 11 2411.0SLC7A6, SLC3A2, SLC7A7, ASS1, ASL
32creatinine449.0G6PD, EPO, SLC3A1, OTC, ASS1, ASL
33glutamate449.0ASL, ASS1, OTC, SLC3A2, SLC3A1
34nitric oxide44 11 2411.0SFTPD, SLC3A1, SLC7A2, OTC, ASS1, ASL
35phenylalanine448.8SLC3A2, SLC3A1, SLC7A8, SLC7A5
36ornithine44 249.8ASL, ASS1, OTC, SLC7A7, SLC3A1, SLC7A6
37glucose448.6SFTPD, G6PD, SLC7A5, SLC7A6, OTC
38alanine448.4SLC7A5, SLC7A8, SLC3A1, SLC3A2, ASS1
39cysteine448.1SLC3A2, SLC3A1, SLC7A8, SLC7A5, SFTPD
40sodium44 248.9SLC7A5, SLC7A6, SLC7A8, SLC3A1, SLC3A2, SLC7A7
41arginine447.8SLC7A5, SLC7A6, SLC3A1, SLC3A2, SLC7A7, SLC7A2
42leucine447.5SFTPD, SLC7A5, SLC7A6, SLC7A8, SLC3A1, SLC3A2

GO Terms for genes affiliated with Lysinuric Protein Intolerance

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
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Sources for Lysinuric Protein Intolerance

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet