scholarly journals Lysinuric protein intolerance in a 5-month-old girl

2016 ◽  
Vol 9 (3) ◽  
pp. 391
Author(s):  
Ira Shah ◽  
ViplavNarayan Deogaonkar
Keyword(s):  
Lysinuric Protein Intolerance ◽  
Lysinuric Protein ◽  
Protein Intolerance

SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

10.1038/6815 ◽  
1999 ◽  
Vol 21 (3) ◽  
pp. 297-301 ◽  
Author(s):  
Giuseppe Borsani ◽  
Maria Teresa Bassi ◽  
Maria Pia Sperandeo ◽  
Alessandro De Grandi ◽  
Anna Buoninconti ◽  
...  
Keyword(s):  
Related Protein ◽  
Lysinuric Protein Intolerance ◽  
Lysinuric Protein ◽  
Protein Intolerance

scholarly journals A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance

2020 ◽  
Vol 29 (13) ◽  
pp. 2171-2184
Author(s):  
Bridget M Stroup ◽  
Ronit Marom ◽  
Xiaohui Li ◽  
Chih-Wei Hsu ◽  
Cheng-Yen Chang ◽  
...  
Keyword(s):  
Mouse Model ◽  
Knockout Mouse ◽  
Skeletal Development ◽  
Growth Failure ◽  
Tubular Dysfunction ◽  
Micro Computed Tomography ◽  
Lysinuric Protein Intolerance ◽  
Knockout Mouse Model ◽  
Lysinuric Protein ◽  
Protein Intolerance

Abstract Lysinuric protein intolerance (LPI) is an inborn error of cationic amino acid (arginine, lysine, ornithine) transport caused by biallelic pathogenic variants in SLC7A7, which encodes the light subunit of the y+LAT1 transporter. Treatments for the complications of LPI, including growth failure, renal disease, pulmonary alveolar proteinosis, autoimmune disorders and osteoporosis, are limited. Given the early lethality of the only published global Slc7a7 knockout mouse model, a viable animal model to investigate global SLC7A7 deficiency is needed. Hence, we generated two mouse models with global Slc7a7 deficiency (Slc7a7em1Lbu/em1Lbu; Slc7a7Lbu/Lbu and Slc7a7em1(IMPC)Bay/em1(IMPC)Bay; Slc7a7Bay/Bay) using CRISPR/Cas9 technology by introducing a deletion of exons 3 and 4. Perinatal lethality was observed in Slc7a7Lbu/Lbu and Slc7a7Bay/Bay mice on the C57BL/6 and C57BL/6NJ inbred genetic backgrounds, respectively. We noted improved survival of Slc7a7Lbu/Lbu mice on the 129 Sv/Ev × C57BL/6 F2 background, but postnatal growth failure occurred. Consistent with human LPI, these Slc7a7Lbu/Lbu mice exhibited reduced plasma and increased urinary concentrations of the cationic amino acids. Histopathological assessment revealed loss of brush border and lipid vacuolation in the renal cortex of Slc7a7Lbu/Lbu mice, which combined with aminoaciduria suggests proximal tubular dysfunction. Micro-computed tomography of L4 vertebrae and skeletal radiographs showed delayed skeletal development and suggested decreased mineralization in Slc7a7Lbu/Lbu mice, respectively. In addition to delayed skeletal development and delayed development in the kidneys, the lungs and liver were observed based on histopathological assessment. Overall, our Slc7a7Lbu/Lbu mouse model on the F2 mixed background recapitulates multiple human LPI phenotypes and may be useful for future studies of LPI pathology.

Immunological abnormality in patients with lysinuric protein intolerance

1995 ◽  
Vol 134 (1-2) ◽  
pp. 178-183 ◽  
Author(s):  
Yoshihiro Yoshida ◽  
Koichi Machigashira ◽  
Masahito Suehara ◽  
Hitoshi Arimura ◽  
Takashi Moritoyo ◽  
...  
Keyword(s):  
Lysinuric Protein Intolerance ◽  
Lysinuric Protein ◽  
Protein Intolerance ◽  
Immunological Abnormality

scholarly journals Oral administration of arginine and citrulline in the treatment of lysinuric protein intolerance.

1984 ◽  
Vol 142 (1) ◽  
pp. 15-24 ◽  
Author(s):  
NAOKI MIZUTANI ◽  
TOMOAKI KATO ◽  
MITSUO MAEHARA ◽  
KAZUYOSHI WATANABE ◽  
MASAKAZU BAN
Keyword(s):  
Oral Administration ◽  
Lysinuric Protein Intolerance ◽  
Lysinuric Protein ◽  
Protein Intolerance

Skeletal manifestations of lysinuric protein intolerance

1993 ◽  
Vol 22 (1) ◽  
Author(s):  
E. Svedstr�m ◽  
K. Parto ◽  
M. Marttinen ◽  
P. Virtama ◽  
O. Simell
Keyword(s):  
Lysinuric Protein Intolerance ◽  
Lysinuric Protein ◽  
Protein Intolerance

scholarly journals The First Korean Case of Lysinuric Protein Intolerance: Presented with Short Stature and Increased Somnolence

2012 ◽  
Vol 27 (8) ◽  
pp. 961 ◽  
Author(s):  
Jung Min Ko ◽  
Choong Ho Shin ◽  
Sei Won Yang ◽  
Moon Woo Seong ◽  
Sung Sup Park ◽  
...  
Keyword(s):  
Short Stature ◽  
Lysinuric Protein Intolerance ◽  
Lysinuric Protein ◽  
Protein Intolerance
Sign in / Sign up

Export Citation Format

Share Document