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Pathway Description
Lysinuric Protein Intolerance
Homo sapiens
Disease Pathway
Lysinuric protein intolerance (Hyperdibasic aminoaciduria II; Dibasic aminoaciduria II; Hyperdibasic aminoaciduria II; LPI), also called hyperdibasic aminoaciduria type 2 or familial protein intolerance, is an autosomal recessive metabolic disorder affecting amino acid transport. LPI is caused by a defect in SLC7A7, Solute carrier family 7, a cationic amino acid transporter. A defect in this enzyme results in accumulation of ammmonia and reticulocytes in blood; glutamine in plasma, carnitine and ferritin in serum, and arginine, lysine and ornithine in urine. Symptoms include bone marrow abnormality, growth retardation, hyperammoniemia, mental retardation, pancreatitis, and seizures.
References
Lysinuric Protein Intolerance References
[OMIM: Entry 222700](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222700)
Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.61 Heilbronn: SPS Verlagsgesellschaft
Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Incerti B, Pepe A, Andria G, Ballabio A, Sebastio G: SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet. 1999 Mar;21(3):297-301. doi: 10.1038/6815.
Pubmed: 10080183
Kato T, Mizutani N, Ban M: Renal transport of lysine and arginine in lysinuric protein intolerance. Eur J Pediatr. 1982 Nov;139(3):181-4.
Pubmed: 6819142
Lauteala T, Mykkanen J, Sperandeo MP, Gasparini P, Savontaus ML, Simell O, Andria G, Sebastio G, Aula P: Genetic homogeneity of lysinuric protein intolerance. Eur J Hum Genet. 1998 Nov-Dec;6(6):612-5. doi: 10.1038/sj.ejhg.5200236.
Pubmed: 9887380
Nunes V, Niinikoski H: Lysinuric Protein Intolerance
Pubmed: 20301535
Kidney Function References
Mount DB: Thick ascending limb of the loop of Henle. Clin J Am Soc Nephrol. 2014 Nov 7;9(11):1974-86. doi: 10.2215/CJN.04480413. Epub 2014 Oct 15.
Pubmed: 25318757
Giebisch G: Renal potassium channels: function, regulation, and structure. Kidney Int. 2001 Aug;60(2):436-45. doi: 10.1046/j.1523-1755.2001.060002436.x.
Pubmed: 11473623
Subramanya AR, Ellison DH: Distal convoluted tubule. Clin J Am Soc Nephrol. 2014 Dec 5;9(12):2147-63. doi: 10.2215/CJN.05920613. Epub 2014 May 22.
Pubmed: 24855283
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