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

Did you mean: acne, aging, Anionic, Systems, Transport

  • 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.[ncbi.nlm.nih.gov] In contrast, AE1-TM1 contains 25 amino acids connected to an aqueous-exposed cytoplasmic region.[ncbi.nlm.nih.gov] […] ammonium to maintain net acid excretion at a level that matched acid production.[ncbi.nlm.nih.gov] RECENT FINDINGS: A topological model of NBCe1 has been established that provides a foundation for future structure-functional studies of the transporter.[ncbi.nlm.nih.gov] This rare case represents a systemic disease with a distinct clinical entity which may be transmitted by autosomal recessive inheritance.[ncbi.nlm.nih.gov]

  • 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.[doi.org] Deviant postnatal net reabsorption for proline and glycine is likely to reflect deviant and specific brush border membrane carrier activity toward these amino acids.[doi.org] The proband appears to be homozygous for iminoglycinuria with an apparent inborn defect of the renal tubular transport system specific to these amino acids.[ncbi.nlm.nih.gov] 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[doi.org] Abstract Amino acid homeostasis depends on specific amino acid transport systems, many of which have been characterized at the molecular level.[doi.org]

  • Hartnup Disease

    We purified plasmid DNA by anion exchange column (Qiagen) and sequenced it as described in the next section.[doi.org] 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[ncbi.nlm.nih.gov] A generally impaired cellular transport of L-histidine is improbable.[ncbi.nlm.nih.gov] 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.[nlm.nih.gov] 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.[ncbi.nlm.nih.gov]

  • 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[academic.oup.com] RESULTS: Our results demonstrated that LPI patients have a dichotomy of amino acid profiles, with both decreased essential and increased non-essential amino acids.[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov] We report lysinuric protein intolerance (LPI) and systemic lupus erythematosus (SLE) in a 14-year-old girl.[ncbi.nlm.nih.gov] BACKGROUND: In the recessive aminoaciduria Lysinuric Protein Intolerance (LPI), mutations of SLC7A7/y LAT1 impair system y L transport activity for cationic amino acids.[ncbi.nlm.nih.gov]

  • Dicarboxylic Aminoaciduria

    Dicarboxylic aminoaciduria involves excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate[en.wikipedia.org] Amino acid clearance studies revealed the presence of renal wastage of dicarboxylic amino acids.[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov] 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[fda.gov] Symptoms Dicarboxylic aminoaciduria involves excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular[wikidoc.org]

  • Carnitine Transporter Deficiency

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

  • 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[ncbi.nlm.nih.gov] Phosphate supplementation and vitamin D are required, while amino acids loss can be addressed by following an appropriate diet.[symptoma.com] Renal tubular acidosis is a metabolic acidosis due to impaired acid excretion by the kidney.[ncbi.nlm.nih.gov] Both mutant transporters exhibit enhanced intracellular retention in renal cells, an observation that probably explains the HCO 3 - transport deficit in the individual.[ncbi.nlm.nih.gov] Abstract A case of a 42-year-old female with hyperthyroidism was subsequently diagnosed to have systemic lupus erythematosus with distal RTA.[ncbi.nlm.nih.gov]

  • 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.[genico.ch] KEYWORDS: amino acid formula; biotin deficiency; carnitine deficiency; hydrolyzed formula; milk allergy[ncbi.nlm.nih.gov] Abstract Valproic acid enhances renal losses of carnitine esters and leads to decreased plasma free carnitine concentrations in many patients receiving valproic acid therapy[ncbi.nlm.nih.gov] Recently, a new family of transporters, named OCT (organic cation transporters) has been described.[ncbi.nlm.nih.gov] Abstract A patient with pericardial effusion and a complicated presentation of primary systemic carnitine deficiency (PSCD) is described.[ncbi.nlm.nih.gov]

  • 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[books.google.com] 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[ncbi.nlm.nih.gov] […] cleavage system, most probably by valproic acid and/or valproyl-CoA.[ncbi.nlm.nih.gov] The importance of such cases in the understanding of the normal metabolism of the nervous system is stressed.[ncbi.nlm.nih.gov] 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.[ncbi.nlm.nih.gov]

  • 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.[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov] His uric acid was 11 mg/dL despite maximal dosing of febuxostat. He had previously failed pegloticase infusions as well.[ncbi.nlm.nih.gov] OBJECTIVE: Fexofenadine is a substrate of P-glycoprotein and organic anion transporting polypeptides.[ncbi.nlm.nih.gov] Search Substance Registration System Information available for 102,892 substances. Did you mean... See Generic Drug Name Endings[fdasis.nlm.nih.gov]