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Lysinuric Protein Intolerance (LPI)
smpdb.ca/view/SMP0000585DiseaseIt 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 … 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.
Enzymes: Sodium- and chloride-dependent transporter XTRP3, Chloride channel protein ClC-KaGlucose Transporter Defect (SGLT2)
smpdb.ca/view/SMP0000184DiseaseSGLT2 is a sodium/glucose co-transporter that exists almost exclusively in kidney tissue. … There are some drugs that inhibit SGLT2 and are used to decrease blood sugar in patients with type 2 diabetes mellitus.
Enzymes: Sodium- and chloride-dependent transporter XTRP3, Chloride channel protein ClC-KaHartnup Disorder
smpdb.ca/view/SMP0000189DiseaseHartunup Disorder (HND, Hartnup Disease) is an autosomal recessive disease caused by a mutation in the SLC6A19 which codes for sodium-dependent neutral amino acid transporter B(0). … Symptoms include pellagra, psychosis, ataxia, and mental retardation. Treatment includes nicotinamide.
Enzymes: Sodium- and chloride-dependent transporter XTRP3, Chloride channel protein ClC-KaCystinuria
smpdb.ca/view/SMP0000723DiseaseThe mutations cause this process to be compromised and allows the amino acids to build up and have a high concentration in urine. This causes crystals to form and become stones as they grow larger. … These stones can become lodged in the bladder or in the kidneys which can cause pain, develop infection and disrupt the passing of urine through the urinary tract if the stones create a blockage there.
Enzymes: Sodium- and chloride-dependent transporter XTRP3, Chloride channel protein ClC-KaIminoglycinuria
smpdb.ca/view/SMP0000193DiseaseThis disorder is characterized by a large accumulation of glycine, proline, and hydroxyproline in the urine. Symptoms of the disorder include urolithiasis and mental retardation. … SLC36A2 codes for a proton-coupled amino acid transporter which facilitates the reuptake of glycine, proline, and hydroxyproline.
Enzymes: Sodium- and chloride-dependent transporter XTRP3, Chloride channel protein ClC-KaBlue Diaper Syndrome
smpdb.ca/view/SMP0000583DiseaseTreatment can include a calcium restricted diet in order to prevent hypercalcemia, and a tryptophan restricted diet to prevent all systems. … Other symptoms can include bacterial infections, damage to various parts of the eye, hypercalcemia, and impaired kidney function due to this.
Enzymes: Sodium- and chloride-dependent transporter XTRP3, Chloride channel protein ClC-KaLysinuric Protein Intolerance
smpdb.ca/view/SMP0000197DiseaseA 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.
Enzymes: Sodium- and chloride-dependent transporter XTRP3, Chloride channel protein ClC-KaGlucose Transporter Defect (SGLT2)
smpdb.ca/view/SMP0000245DiseaseThis defect causes massive accumulation of glucose in the urine, and symptoms include glucosuria. … reabsorptive mechanism for D-glucose in the kidney is known to involve a lower affinity, high capacity Na()/glucose cotransporter, which is located in the early proximal convoluted tubule segment S1 and
Enzymes: Sodium- and chloride-dependent transporter XTRP3, Chloride channel protein ClC-KaRabeprazole Action Pathway
smpdb.ca/view/SMP0000229Drug actionA chloride ion is transported into the gastric endothelial cell through a chloride anion exchanger and is transported out of the cell through a chloride intracellular channel protein 2, back into the gastric … The potassium transporting ATPase also converts water and ATP to a phosphate molecule and ADP. Alongside the transporters, potassium is brought into the cell.
Enzymes: Chloride intracellular channel protein 2, Potassium-transporting ATPase alpha chain 1Gastric Acid Production
smpdb.ca/view/SMP0000589PhysiologicalHowever, it is also constituted of potassium chloride (KCl) and sodium chloride (NaCl). … Moreover, the chloride and potassium ions are transported into the stomach lumen through their own channels so that hydrogen ions and/or potassium ions can form an ionic bond with chloride ions to form
Enzymes: Chloride intracellular channel protein 2, Potassium-transporting ATPase alpha chain 1