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9,065 Possible Causes for Acid, Amino, Systems, Transport

Did you mean: acne, amines, Systems, Transport

  • Iminoglycinuria

    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

    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

    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.[]

  • Carnitine Transporter Deficiency

    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[]

  • Cystinuria

    Patient 1 is a compound heterozygote with mutations in the rBAT gene causing a glutamine-to-lysine transition at amino acid 268, and a threonine-to-alanine transition at amino[] Systems, Basic/genetics* Amino Acid Transport Systems, Neutral/chemistry Amino Acid Transport Systems, Neutral/genetics* Binding Sites Computational Biology/methods* Computer[] In this study we describe a new LC-MS/MS assay for these amino acids in urine.[] […] biogenesis of the transporter cause type I cystinuria.[]

  • Connective Tissue Disease

    Amino acid and organic acid metabolism disorders include Beta-Amino Acid and Gamma-Amino Acid Disorders Disease (OMIM Number) Defective Proteins or Enzymes Defective Gene[] In conclusion, NDC represents a dynamic state, and it is important to recognize the possibility of a progression to a definite systemic autoimmune disease.[] Many connective tissue diseases feature abnormal immune system activity with inflammation in tissues as a result of an immune system that is directed against one's own body[] Systemic lupus erythematosus is treated through immunesuppressants and the patient is advised bed rest.[]

  • Hyperglycinuria

    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.[]

  • Influenza

    The most important amino acid factor (Factor 3) and the minimal range of signature positions (50 amino acid residues) were explored by a supporting vector machine (the highest-performing[] Dynein-Directed Transport on Microtubules in Stage II.[] Acute disseminated encephalomyelitis is an inflammatory demyelinating disease of the central nervous system that has been associated with influenza immunization, but only[] Virulent avian influenza strains, which cause systemic disease, have an HA that is cleaved by proteases present in all cells of the body, rather than by proteases restricted[]

  • Carnitine

    Quantity: Subtotal: ( items in your basket) Easy-to-take amino formula GBP 11.99 RRP: 14.99 11.99 Save 3.00 Product Overview Carnitine is created in the body from the amino[] Valproic acid and carnitine .[] […] by the carnitine/organic cation transporter 2 (OCTN2, SLC22A5) but not by the organic cation transporter 1 (OCT1) and N1 (OCTN1).[] Systemic primary (CDSP) Carnitine uptake deficiency (CUD) Systemic carnitine deficiency (SCD) Primary carnitine deficiency Deficiency of plasma-membrane carnitine transporter[]

  • Dicarboxylic Aminoaciduria

    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[] Category Urinary system disease; Kidney disease; Inherited metabolic disease Brite Human diseases [BR: br08402 ] Congenital disorders of metabolism Congenital disorders of[] system of low affinity and a H -dependent system ( 152 ).[]