Lysinuric protein intolerance | About the Disease | GARD
Lysinuric protein intolerance is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from ...
Lysinuric Protein Intolerance - GeneReviews® - NCBI Bookshelf
2006年12月21日 · Lysinuric protein intolerance (LPI) typically presents after an infant is weaned from breast milk or formula; variable findings include recurrent vomiting and episodes of diarrhea, episodes of stupor and coma after a protein-rich meal, poor feeding, aversion to protein-rich food, failure to thrive, hepatosplenomegaly, and muscular hypotonia. Over time, findings include: …
Lysinuric protein intolerance - MedlinePlus
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 absorb these amino acids, which are found in many protein-rich foods, nausea and vomiting are typically experienced after ingesting protein.
Lysinuric protein intolerance - Wikipedia
Lysinuric protein intolerance (LPI) is an autosomal recessive [1] metabolic disorder affecting amino acid transport. It is characterised by the body's inability to properly digest and use certain proteins. [2] This condition leads to various metabolic complications and is typically diagnosed in infancy or early childhood. [3]
Overview of symptoms and treatment for lysinuric protein intolerance ...
2019年6月18日 · Lysinuric protein intolerance (LPI) is caused by dysfunction of the dibasic amino acid membrane transport owing to the functional abnormality of y+L amino acid transporter-1 (y+ LAT-1). LPI is ...
Overview of symptoms and treatment for lysinuric protein intolerance ...
Lysinuric protein intolerance (LPI) is caused by dysfunction of the dibasic amino acid membrane transport owing to the functional abnormality of y + L amino acid transporter-1 (y + LAT-1). LPI is associated with autosomal recessive inheritance and pathological variants in the responsible gene SLC7A7 are also observed. The pathophysiology of ...
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease ...
Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y+LAT1. The disease is characterised by protein-rich food ...
Lysinuric protein intolerance - NIH Genetic Testing Registry …
Lysinuric protein intolerance (LPI) typically presents after an infant is weaned from breast milk or formula; variable findings include recurrent vomiting and episodes of diarrhea, episodes of stupor and coma after a protein-rich meal, poor feeding, aversion to protein-rich food, failure to thrive, hepatosplenomegaly, and muscular hypotonia. ...
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease ...
2017年1月5日 · Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y+LAT1. The disease is characterised by protein-rich food intolerance with secondary urea cycle disorder, but symptoms are heterogeneous ranging from infiltrative lung disease, …
Lysinuric Protein Intolerance - PubMed
2018年4月12日 · Clinical characteristics: Lysinuric protein intolerance (LPI) typically presents after an infant is weaned from breast milk or formula; variable findings include recurrent vomiting and episodes of diarrhea, episodes of stupor and coma after a protein-rich meal, poor feeding, aversion to protein-rich food, failure to thrive, hepatosplenomegaly, and muscular hypotonia.
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