Lysinuric protein intolerance (LPI) is an autosomal recessive metabolic disorder affecting amino acid transport. It is characterised by the body's inability...
10 KB (903 words) - 19:53, 26 September 2024
Cotransporter (category Integral membrane proteins)
Cotransporters are a subcategory of membrane transport proteins (transporters) that couple the favorable movement of one molecule with its concentration...
22 KB (2,288 words) - 20:18, 2 October 2023
Amino acid score (category Proteins)
build up is Lysinuric protein intolerance which occurs from indigestibility of lysine, arginine, and ornithine found in foods with high protein levels. Leser...
5 KB (644 words) - 12:52, 20 June 2024
locate surface-breaking defects in all non-porous materials Lysinuric protein intolerance, an autosomal recessive metabolic disorder affecting amino acid...
3 KB (391 words) - 13:59, 13 July 2023
chronically elevated after a high protein diet, but may be normal when fasting. The metabolic disorder, lysinuric protein intolerance is caused by the body's inability...
9 KB (1,150 words) - 18:53, 12 August 2024
deficiency, congenital Lethal congenital contracture syndrome 1 Lysinuric protein intolerance Meckel syndrome Megaloblastic anemia-1, Finnish and Norwegian...
13 KB (1,459 words) - 14:53, 10 October 2024
papulosis) Lysine alpha-ketoglutarate reductase deficiency Lysinuric protein intolerance Lysosomal alpha-D-mannosidase deficiency Lysosomal beta-mannosidase...
10 KB (900 words) - 15:15, 1 April 2022
disorder is caused by a deficiency in the enzyme UMPS, a bifunctional protein that includes the enzyme activities of OPRT and ODC. In one study of three...
6 KB (585 words) - 15:13, 25 October 2024
lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report". Orphanet Journal of Rare Diseases. 2: 14. doi:10...
22 KB (2,309 words) - 08:35, 22 November 2024
Y+L amino acid transporter 1 (category Membrane protein stubs)
Heterodimeric amino acid transporter Solute carrier family Lysinuric protein intolerance GRCh38: Ensembl release 89: ENSG00000155465 – Ensembl, May 2017...
7 KB (824 words) - 06:23, 5 March 2024
Large neutral amino acids transporter small subunit 2 (category Membrane protein stubs)
"SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance". Nat Genet. 21 (3): 297–301. doi:10.1038/6815...
5 KB (658 words) - 05:49, 4 January 2024
Heterodimeric amino-acid transporter (category Protein families)
transport proteins that facilitate the transport of certain amino acids across cell membranes. Each comprises a light and a heavy protein subunit. Transport...
2 KB (85 words) - 06:09, 29 November 2023
BIRC4 Lymphoproliferative syndrome, X-linked; 308240; SH2D1A Lysinuric protein intolerance; 222700; SLC7A7 Lysosomal acid phosphatase deficiency; 200950;...
234 KB (18,877 words) - 06:16, 6 November 2024
Y+L amino acid transporter 2 (category Membrane protein stubs)
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...
3 KB (399 words) - 12:55, 18 January 2024
Sialidase-2 (category Human proteins)
A, Buoninconti A (2000). "SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated...
6 KB (664 words) - 16:33, 27 January 2024