PathWhiz

PathWhiz ID	Pathway	Meta Data
PW000220 View Pathway	disease Lysinuric Protein Intolerance Homo sapiens 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. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 20, 2013 at 15:20 Last Updated: August 20, 2013 at 15:20
PW121804 View Pathway	disease Lysinuric Protein Intolerance Mus musculus 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. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:49 Last Updated: September 10, 2018 at 15:49
PW122029 View Pathway	disease Lysinuric Protein Intolerance Rattus norvegicus 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. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:51 Last Updated: September 10, 2018 at 15:51
PW000561 View Pathway	disease Lysinuric Protein Intolerance (LPI) Homo sapiens Lysinuric protein intolerance (LPI), also called hyperdibasic aminoaciduria, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of the kidney function pathway. It is caused by a mutation in the SLC7A7 gene which encodes the Y+L amino acid transporter 1 protein, which is involved in the uptake of amino acids, both with sodium for neutral amino acids, and without for dibasic amino acids. In this disorder, the amino acids lysin, arginine and ornithine, found in protein, cannot be broken down, which can cause problems in the systems that use these amino acids, such as the urea cycle. LPI is characterized by a shortage of lysine, arginine and ornithine within the body, causing elevated ammonia levels in the blood. Symptoms of the disorder include failure to thrive after weaning, nausea and vomiting following a meal containing large amounts of protein, as well as osteoporosis, and lung and kidney problems. Treatment with a protein restricted diet is effective, as well as prescription of medication to lower the levels of ammonia in the blood. It is estimated that the LPI affects 1 in 60,000 individuals in certain populations such as in Finland and Japan, and less frequently outside these populations. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 29, 2013 at 10:39 Last Updated: August 29, 2013 at 10:39
PW121904 View Pathway	disease Lysinuric Protein Intolerance (LPI) Mus musculus Lysinuric protein intolerance (LPI), also called hyperdibasic aminoaciduria, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of the kidney function pathway. It is caused by a mutation in the SLC7A7 gene which encodes the Y+L amino acid transporter 1 protein, which is involved in the uptake of amino acids, both with sodium for neutral amino acids, and without for dibasic amino acids. In this disorder, the amino acids lysin, arginine and ornithine, found in protein, cannot be broken down, which can cause problems in the systems that use these amino acids, such as the urea cycle. LPI is characterized by a shortage of lysine, arginine and ornithine within the body, causing elevated ammonia levels in the blood. Symptoms of the disorder include failure to thrive after weaning, nausea and vomiting following a meal containing large amounts of protein, as well as osteoporosis, and lung and kidney problems. Treatment with a protein restricted diet is effective, as well as prescription of medication to lower the levels of ammonia in the blood. It is estimated that the LPI affects 1 in 60,000 individuals in certain populations such as in Finland and Japan, and less frequently outside these populations. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:50 Last Updated: September 10, 2018 at 15:50
PW122128 View Pathway	disease Lysinuric Protein Intolerance (LPI) Rattus norvegicus Lysinuric protein intolerance (LPI), also called hyperdibasic aminoaciduria, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of the kidney function pathway. It is caused by a mutation in the SLC7A7 gene which encodes the Y+L amino acid transporter 1 protein, which is involved in the uptake of amino acids, both with sodium for neutral amino acids, and without for dibasic amino acids. In this disorder, the amino acids lysin, arginine and ornithine, found in protein, cannot be broken down, which can cause problems in the systems that use these amino acids, such as the urea cycle. LPI is characterized by a shortage of lysine, arginine and ornithine within the body, causing elevated ammonia levels in the blood. Symptoms of the disorder include failure to thrive after weaning, nausea and vomiting following a meal containing large amounts of protein, as well as osteoporosis, and lung and kidney problems. Treatment with a protein restricted diet is effective, as well as prescription of medication to lower the levels of ammonia in the blood. It is estimated that the LPI affects 1 in 60,000 individuals in certain populations such as in Finland and Japan, and less frequently outside these populations. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:52 Last Updated: September 10, 2018 at 15:52
PW002532 View Pathway	metabolic Lysolipid Incorporation into ER Saccharomyces cerevisiae Lysolipids such as lysophosphatidylethanolamine, lysophosphatidylcholine, lysophosphatidylserine and lysophosphatidylinositol get transported into the cell through a phospholipid ATPase. Once in the cytosol they are incorporated into the ER membrane through a Ale1p transport membrane where phosphatidylcholine is generated. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: miguel ramirez Created On: April 20, 2016 at 17:17 Last Updated: April 20, 2016 at 17:17
PW002780 View Pathway	metabolic Lysolipid Incorporation into ER PC(10:0/10:0) Saccharomyces cerevisiae Lysolipids such as lysophosphatidylethanolamine, lysophosphatidylcholine, lysophosphatidylserine and lysophosphatidylinositol get transported into the cell through a phospholipid ATPase. Once in the cytosol they are incorporated into the ER membrane through a Ale1p transport membrane where phosphatidylcholine is generated. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: July 24, 2016 at 14:48 Last Updated: July 24, 2016 at 14:48
PW002783 View Pathway	metabolic Lysolipid Incorporation into ER PC(14:0/14:0) Saccharomyces cerevisiae Lysolipids such as lysophosphatidylethanolamine, lysophosphatidylcholine, lysophosphatidylserine and lysophosphatidylinositol get transported into the cell through a phospholipid ATPase. Once in the cytosol they are incorporated into the ER membrane through a Ale1p transport membrane where phosphatidylcholine is generated. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: July 24, 2016 at 14:49 Last Updated: July 24, 2016 at 14:49
PW002784 View Pathway	metabolic Lysolipid Incorporation into ER PC(16:0/16:0) Saccharomyces cerevisiae Lysolipids such as lysophosphatidylethanolamine, lysophosphatidylcholine, lysophosphatidylserine and lysophosphatidylinositol get transported into the cell through a phospholipid ATPase. Once in the cytosol they are incorporated into the ER membrane through a Ale1p transport membrane where phosphatidylcholine is generated. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: July 24, 2016 at 14:50 Last Updated: July 24, 2016 at 14:50