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9,959 Possible Causes for Acid, Amino, Anionic, Systems,, Transport

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  • Proximal Renal Tubular Acidosis

    Laboratory studies showed a low level of serum bicarbonate, a normal serum anion gap, and a positive urine anion gap. There was no history of diarrhea.[] In contrast, AE1-TM1 contains 25 amino acids connected to an aqueous-exposed cytoplasmic region.[] […] ammonium to maintain net acid excretion at a level that matched acid production.[] RECENT FINDINGS: A topological model of NBCe1 has been established that provides a foundation for future structure-functional studies of the transporter.[] This rare case represents a systemic disease with a distinct clinical entity which may be transmitted by autosomal recessive inheritance.[]

  • Iminoglycinuria

    Broer A, Wagner C, Lang F, Broer S (2000) Neutral amino acid transporter ASCT2 displays substrate-induced Na exchange and a substrate-gated anion conductance.[] Deviant postnatal net reabsorption for proline and glycine is likely to reflect deviant and specific brush border membrane carrier activity toward these amino acids.[] The proband appears to be homozygous for iminoglycinuria with an apparent inborn defect of the renal tubular transport system specific to these amino acids.[] Glycine is reabsorbed by more than one renal transport system, and the biochemical mechanisms that control intestinal transport of glycine and the imino acids are not identical[] Abstract Amino acid homeostasis depends on specific amino acid transport systems, many of which have been characterized at the molecular level.[]

  • Hartnup Disease

    We purified plasmid DNA by anion exchange column (Qiagen) and sequenced it as described in the next section.[] The suggestion is advanced that in cases of Hartnup disease protein nutrition is maintained by intestinal uptake of amino acids as oligopeptides rather than as free amino[] A generally impaired cellular transport of L-histidine is improbable.[] Rarely, there have been reports of severe nervous system disease and even deaths in families with this disorder. In most cases, there are no complications.[] Urinary amino acids concentration in the son and his mother were rather normal, although low concentration of eight amino acids was found in the mother's urine.[]

  • Lysinuric Protein Intolerance

    Then, at the age of 9, a persistent metabolic acidosis (pH 7.33, p CO 2 28 mmHg and bicarbonate 14 mmol/L) with an elevated anion gap of 20.4 (normal 3000 mL/day) and renal[] RESULTS: Our results demonstrated that LPI patients have a dichotomy of amino acid profiles, with both decreased essential and increased non-essential amino acids.[] With a great increase of the filtered load the saturated intracellular amino acid, which is not transported to the capillary because of a transport defect of the basolateral[] We report lysinuric protein intolerance (LPI) and systemic lupus erythematosus (SLE) in a 14-year-old girl.[] BACKGROUND: In the recessive aminoaciduria Lysinuric Protein Intolerance (LPI), mutations of SLC7A7/y LAT1 impair system y L transport activity for cationic amino acids.[]

  • Dicarboxylic Aminoaciduria

    Dicarboxylic aminoaciduria involves excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate[] Amino acid clearance studies revealed the presence of renal wastage of dicarboxylic amino acids.[] Solute carrier family 1, member 1 (SLC1A1; also known as EAAT3 and EAAC1) is the major epithelial transporter of glutamate and aspartate in the kidneys and intestines of rodents[] We believe the software used in class II newborn screening test systems for amino acids, free carnitine, and acylcarnitines using tandem mass spectrometry systems meets the[] Symptoms Dicarboxylic aminoaciduria involves excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular[]

  • Carnitine Transporter Deficiency

    AE1) anion transport protein.[] From Wikidata Jump to navigation Jump to search amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells[] For activation of fatty acids, enzyme thiokinase or acyl-CoA synthetases convert the fatty acids to fatty acyl-CoA .[] This protein helps in transporting carnitine to the inside of the cell.[] […] transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect Definition: An amino[]

  • Renal Tubular Acidosis

    Gov't MeSH terms Acidosis, Renal Tubular/metabolism* Adaptor Proteins, Signal Transducing Anion Exchange Protein 1, Erythrocyte/genetics* Anion Exchange Protein 1, Erythrocyte[] Phosphate supplementation and vitamin D are required, while amino acids loss can be addressed by following an appropriate diet.[] Renal tubular acidosis is a metabolic acidosis due to impaired acid excretion by the kidney.[] Both mutant transporters exhibit enhanced intracellular retention in renal cells, an observation that probably explains the HCO 3 - transport deficit in the individual.[] Abstract A case of a 42-year-old female with hyperthyroidism was subsequently diagnosed to have systemic lupus erythematosus with distal RTA.[]

  • Carnitine Deficiency

    Metabolic acidosis with increased anion-gap is typically present, and plasma branch-chain amino acids (leucine, isoleucine, and valine) are seen. Hypoglycemia may occur.[] KEYWORDS: amino acid formula; biotin deficiency; carnitine deficiency; hydrolyzed formula; milk allergy[] Abstract Valproic acid enhances renal losses of carnitine esters and leads to decreased plasma free carnitine concentrations in many patients receiving valproic acid therapy[] Recently, a new family of transporters, named OCT (organic cation transporters) has been described.[] Abstract A patient with pericardial effusion and a complicated presentation of primary systemic carnitine deficiency (PSCD) is described.[]

  • Hyperglycinuria

    Transport in Erythrocytes 191 Anion Exchange in Human Erythrocytes 192 Net Anion Transport in Red Blood Cells 205 Anion Transport in Other Single Cells 209 Relationship of[] Both inheritance and functional studies identified the gene encoding the proton amino acid transporter SLC36A2 (PAT2) as the major gene responsible for IG in these families[] […] cleavage system, most probably by valproic acid and/or valproyl-CoA.[] The importance of such cases in the understanding of the normal metabolism of the nervous system is stressed.[] Abstract The case of a seven and a half-year-old girl with hyperglycinuria, oxalate nephrolithiasis, and a normal plasma amino acid pattern is presented.[]

  • Probenecid

    The host organic anion transporter-3 gene (OAT3), a member of the SLC22 family of transporters, was validated as being required to support influenza A virus replication.[] Through a comprehensive analysis of hTAS2R16 point mutants, we define amino acid residues involved in the probenecid interaction that result in decreased sensitivity to probenecid[] His uric acid was 11 mg/dL despite maximal dosing of febuxostat. He had previously failed pegloticase infusions as well.[] OBJECTIVE: Fexofenadine is a substrate of P-glycoprotein and organic anion transporting polypeptides.[] Search Substance Registration System Information available for 102,892 substances. Did you mean... See Generic Drug Name Endings[]