It is a disease involving the defective transepithelial transport of cystine and dibasic amino acids in the kidney and intestine, and is one of many causes of kidney stones. (wikipedia.org)
In 1993, Lee et al cloned a human complementary DNA, rBAT (renal basic amino acid transporter) in chromosome 2, encoding a transport protein for cystine and dibasic amino acids. (medscape.com)
Lysine2
Cystinuria is an autosomal-recessive defect in reabsorptive transport of cystine and the dibasic amino acids ornithine, arginine, and lysine from the luminal fluid of the renal proximal tubule and small intestine. (medscape.com)
Cystinuria is an inherited autosomal recessive disease characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureters, and bladder. (wikipedia.org)
Bartter syndrome (BS) is a rare autosomal recessive disorder of salt reabsorption at the thick ascending limb of the Henle loop, characterized by hypokalemia, salt loss, metabolic alkalosis, hyperreninemic hyperaldosteronism with normal blood pressure. (biomedcentral.com)
Proximal5
Cystinuria is characterized by the inadequate reabsorption of cystine in the proximal convoluted tubules after the filtering of the amino acids by the kidney's glomeruli, thus resulting in an excessive concentration of this amino acid in the urine. (wikipedia.org)
Amino acids are readily filtered by the glomerulus and undergo nearly complete reabsorption by proximal tubular cells. (medscape.com)
Various authors have studied amino acid transport in cell membranes obtained from the proximal renal tubule of humans, rats, and rabbits. (medscape.com)
The high-affinity system mediates uptake of 10% of L-cystine and the dibasic amino acids at the apical membrane of the straight third segment (S3) of the proximal tubule. (medscape.com)
Low-affinity system: This system is present in the S1-S2 part of the proximal tubule and is responsible for 90% of L-cystine reabsorption. (medscape.com)
Urine5
Under normal circumstances, this protein allows certain amino acids, including cystine, to be reabsorbed into the blood from the filtered fluid that will become urine. (wikipedia.org)
Mutations in either of these genes disrupt the ability of this transporter protein to reabsorb these amino acids, allowing them to become concentrated in the urine. (wikipedia.org)
Cystine may precipitate out of the urine, if the urine is neutral or acidic, and form crystals or stones in the kidneys, ureters, or bladder. (wikipedia.org)
Only 0.4% of the filtered cystine appears in the urine. (medscape.com)
Cystinuria1
[ 10 ] In 1961, Milne et al demonstrated reduced intestinal absorption of dibasic amino acids in persons with cystinuria. (medscape.com)
Intestinal1
The intestinal lipase also hydrolyses the emulsified fats into fatty acids and glycerol. (psebsolutions.com)
Kidney1
BACKGROUND: We investigated whether there exists an association between dietary acid load and kidney function decline in women living with HIV (WLWH) receiving antiretroviral therapy (ART). (bvsalud.org)
As blood courses through the glomeruli, soaks out of the blood through the membranes (by osmosis and diffusion) filtered flows into the Bowman's capsule. (easynotecards.com)
Amount1
3. It involves the incomplete oxidation of glucose into CO 2 and alcohol or lactic acid and less amount of energy is released. (psebsolutions.com)
Cystinuria is an autosomal-recessive defect in reabsorptive transport of cystine and the dibasic amino acids ornithine, arginine, and lysine from the luminal fluid of the renal proximal tubule and small intestine. (medscape.com)
Metabolism5
The disease is attributed to deficiency in transport and metabolism of amino acids. (wikipedia.org)
Although not very accurate, this tells us how the kidney is responding to acid-base disturbances or dealing with the normal acid load produced from amino acid metabolism. (eclinpath.com)
CONTENTS Foreword National Cancer Institute Introduction Specific highlights Natural history of the disease Acute leukemia Multiple myeloma Head and neck cancer Cervical cancer Infection in surgery Theory of basal cell cancer Therapy Biochemical and physiological studies Immunological Steroid chemistry Pyrimidine metabolism Pharmacology Normal skin Lymphangiography White cells and platelets Carcinogenesis Metabolism service Amino acid transport Gamma globulin structure Gamma globulin metabolism Albumin metabolism Immunological studies Nucleic acid and pyrimidine metabolism. (nih.gov)
85 Cardioglobulin 86 CONTENTS IX Page Laboratory of metabolism 86 Pathway and inhibitors of cholesterol biosyn- thesis 87 Normal pathway of cholesterol biosyn- thesis 87 Desmosterol reductase 87 Desmosterol as precursor of adrenal ste- roids and bile acids 88 Sterol metabolism in skin and optic lens. (nih.gov)
93 Alkaloid work 93 Kallikrein-kallidinogen-kallidin system 93 Informal collaborative research 93 Laboratory of clinical biochemistry 94 Am ine biogenesis and metabolism 94 Collagen and hydroxyproline 95 Proteins and peptides 95 Amino acid uptake by animal tissues 96 Biosynthesis of phospholipids and other lipids- 97 Vitamin B 12 97 Development of analytical procedures 98 Section on biochemical genetics 98 RNA and genetic code 98 Cell-free assay for messenger RNA. (nih.gov)
Transporter3
Mutations in either of these genes disrupt the ability of this transporter protein to reabsorb these amino acids, allowing them to become concentrated in the urine. (wikipedia.org)
Also, as an example of application of the data resource, we describe the patterns of acid-base transporter expression along the renal tubule. (nih.gov)
[ 14 ] The normal SLC7A9 gene encodes a subunit of the cystine transporter called b 0,+ AT (amino acid transporter). (medscape.com)
Renal2
The visceral layer covers the glomerulus and parietal layer and constituents the wall of the corpuscle being continuous with a renal tubule. (golifescience.com)
In some animals, pH can also tell us about renal tubular disease (e.g. in distal renal tubular acidosis, the pH of the urine is alkaline as the distal tubules can no longer acidify the urine or excrete acid, resulting in a systemic metabolic acidosis). (eclinpath.com)
Protein1
137 Folic acid 138 Large-scale laboratory 138 Germ-free program 138 Laboratory of physical biology 139 Physiology 139 Molecular structure 139 Protein structure, activity, synthesis 140 Biological energy 140 Laboratory of chemistry 141 Rotatory dispersion of nucleosides 141 Cz's-nucleosides 141 Octuloses and nonuloses 142 Anhydroheptuloses 142 Rearrangements of cyclitols 142 Glycosyl cyanides 142 Benzomorphans 142 Phenolic hydroxyl in a- and ^-benzomorphans. (nih.gov)
Describe1
They describe the glomerulus as having two poles. (golifescience.com)