Amino acid transport defects. Medical search. Frequent questions

Amino acid disorder screening checks for inherited disorders in amino acid metabolism. (encyclopedia.com)
Amino acid disorder screening is done in newborns, and sometimes children and adults, to detect inborn errors in metabolism of amino acids. (encyclopedia.com)
Congenital (present at birth) enzyme deficiencies that affect amino acid metabolism or congenital abnormalities in the amino acid transport system of the kidneys creates a condition called aminoaciduria. (encyclopedia.com)
This is an genetic error in metabolism of phenylalanine, an amino acid found in milk. (encyclopedia.com)
6. Disorders of amino acid metabolism and transport such as phenylketonuria, homocystinuria, maple syrup urine disease, urea cycle defects, Hartnup disease, and Lowe syndrome. (nih.gov)
Overview of Amino Acid and Organic Acid Metabolism Disorders The kidneys actively reabsorb significant amounts of amino acids. (msdmanuals.com)
After absorption, transport and intracellular metabolism, dietary vitamin B12 is converted into methyl - and 5'-deoxyadenosyl-cobalamin, the active cofactors for the enzymes methionine synthase (MS) and methylmalonyl-CoA mutase (MUT). (nih.gov)
The study of patients with genetic defects in vitamin B12 metabolism and cobalamin-dependent enzymes has provided unique insights into the role these enzymes play in amino and organic acid metabolism. (nih.gov)
One group of disorders caused by deficient activity of MUT are the hereditary methylmalonic acidemias (MMA), grave and heterogenous inborn errors of organic acid metabolism. (nih.gov)
In this talk, I will give an overview of vitamin B12 metabolic disorders, including MMA, and describe how patient observations, coupled with animal models, have afforded an increased understanding of cobalamin and organic acid metabolism, and led to the development of new treatment approaches, including gene therapy. (nih.gov)
The 3 main categories in which they can be classified are (1) alterations in the function of the carriers that transport substances across the luminal membrane, (2) disturbances in cellular energy metabolism, and (3) changes in permeability characteristics of the tubular membranes. (medscape.com)
A defect in cellular energy metabolism appears to be a more plausible cause. (medscape.com)
Under the scenario of a defective cellular energy metabolism, any process that results in a decrease in the level of ATP impairs the performance of secondary active transport mechanisms, such as those of glucose, phosphate, or amino acids. (medscape.com)
His research group focuses on inborn errors of metabolism, which include defects in the body's biochemical processes caused by rare genetic disorders, such as cystinosis, Hermansky-Pudlak syndrome, alkaptonuria, and ciliopathies. (nih.gov)
Dent CC, Rose GA. Amino acid metabolism in cystinuria. (medscape.com)
Both forms of the vitamin contribute to essential biological functions such as DNA synthesis and repair, amino acid metabolism, and the formation and maturation of red and white blood cells. (nutriscape.net)
To address this hypothesis we measured arginine transport/metabolism in monocyte-derived macrophages (MDM), obtained from peripheral blood monocytes isolated from 5 LPI patients. (unipr.it)
This pathologic condition is characterized by the accumulation of intracytosol G6P, leading to alternative pathways of glucose metabolism such as excessive formation of triglycerides, lactate, and uric acid, resulting in hypertriglyceridemia, lactic acidosis, and hyperuricemia. (biomedcentral.com)

Hartnup disease is a condition caused by the body's inability to absorb certain protein building blocks (amino acids) from the diet. (medlineplus.gov)
The function of this protein is to transport certain amino acids into cells. (medlineplus.gov)
Broer S. The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition. (medlineplus.gov)
In vitro studies of mouse intestinal organoids revealed that exacerbation of the primary defect was associated with reduced arginine uptake across the apical membrane, with aberrant nitric oxide and cyclic GMP-mediated regulation of the major CF-causing mutant protein. (nih.gov)
The primary defect in patients presenting with a history of protein intolerance, mental retardation, and epilepsy of variable degree, with the unique triad of hyperornithinemia, hyperammonemia, and homocitrullinuria (the HHH syndrome) has been postulated to be a defect in translocation of ornithine into the mitochondria. (nih.gov)
The mutant protein has the amino acid phenylalanine at position 180 instead of valine. (wikipedia.org)
The primary biological role of the BCAAs are as building blocks for protein synthesis and thus, they comprise a significant portion [of the] amino acid content in muscle and body protein. (aacc.org)
In addition, these amino acids function in protein turnover and nitrogen disposal, cell signaling, and carbohydrate and ketone homeostasis. (aacc.org)
Protein synthesis is predicted to be a major efflux pathway for all amino acid precursors of GSH synthesis and an essential model element. (nih.gov)
This was the first time that a transport protein was shown to translocate different substrates with different stoichiometries. (thyroid.org)
Furthermore, guided by mutations in patients with congenital I- transport defects, she has identified amino acid substitutions in NIS that change the substrate specificity and stoichiometry of the protein. (thyroid.org)
Perchlorate is a competitive inhibitor of the sodium iodide symporter, the thyroid cell-surface protein responsible for transporting iodide from the plasma into the thyroid. (nih.gov)
Although direct identification of abnormal protein structure still was not possible, such defects could be inferred, indirectly, by demonstrating alterations in the kinetic properties of patients' enzymes (ie, rates of reaction as concentrations of cofactor or substrate were varied) or in the rate at which heating the enzyme altered its catalytic properties. (medscape.com)
A change in structure was in those days thought to be due to a change in an amino acid somewhere in the peptide chain of the protein. (medscape.com)
As a result, we now know many genetic defects responsible for neurological disease, but frequently we do not know much about the resulting protein product and therefore the pathophysiologic basis for the disease. (medscape.com)
existing proteins must be broken down to produce these amino acids for new protein synthesis. (basicmedicalkey.com)
He had been diagnosed with cystinuria, a genetically determined amino acid substitution in the transport protein that normally reabsorbs cysteine, arginine, and lysine from the kidney lumen back into the renal tubular cells. (basicmedicalkey.com)
The protein encoded by this gene is the light subunit of a cationic amino acid transporter. (nih.gov)
Defects in this gene are a cause of lysinuric protein intolerance (LPI). (nih.gov)
Its association with certain alleles of the gene coding for skeletal muscle sodium channels has led researchers to believe that a point mutation results in a single amino acid in the alpha subunit of the sodium channel protein. (purdue.edu)
As stated earlier, the makeup of the amino acid chains in the protein determines the Carrier proteins are transport proteins that are only open to one side of the membrane at once. (web.app)
A carrier protein is a transport protein that is specific for an ion, molecule, or group of substances. (web.app)
av S Cherukuri · 2005 · Citerat av 151 - The essential role of ferroportin in iron transport from enterocytes, as well as but it likely involves oxidation to ferric ion to increase binding to its carrier protein, Global variability analysis of mRNA and protein concentrations across and within Coexistence of passive and carrier-mediated processes in drug transport. (web.app)
808, 2378, _AQGEPVAGHES(ph)PK_, D6REX3, Protein transport protein Sec31A _ASPGTPLS(ph)PGSLR_, E1P5H9, Solute carrier organic anion transporter Title of thesis: Functional and structural study of Solute Carrier (SLC) proteins use ofMemStar has facilitated struc- tural studies of several transport proteins. (web.app)
Chapter 15: Intracellular Compartments and Protein Transport av MG till startsidan Sök - sjukdom som orsakas av en förändring i hemoglobin (Hb), det protein som ger Dessutom sker en onormal aktivering av transportkanaler i Americas GS1 Data matrix is a machine-readable, 2-dimensional data carrier. (web.app)
The complement control protein (CCP) modules (also known as short consensus repeats SCRs or SUSHI repeats) contain approximately 60 amino acid residues and have been identified in several proteins of the complement system. (embl.de)
These studies demonstrate that a Cys430-Phe mutation does not prevent the de novo synthesis of the b subunit, but alters the conformation of the mutant protein sufficiently to impair its intracellular transport, resulting in its deficiency in this patient. (embl.de)
The complement control protein (CCP) modules (also known as short consensus repeats) are defined by a consensus sequence within a stretch of about 60 amino acid residues. (embl.de)
Lysinuric Protein Intolerance (LPI) is an inherited transport defect of cationic amino acids (arginine, lysine and ornithine) transport at the basolateral membrane of intestinal and renal tubular cells caused by mutations in SLC7A7 encoding for System y+L-related y+LAT1 protein. (unipr.it)
The protein is also critical for maintaining the network of "microtubules" that constitutes the transport system for proteins to different parts of the cell, he added. (dukehealth.org)
Further study revealed that the defects in the dynamin 2 gene all fell in the region that encodes the same portion of its product protein. (dukehealth.org)
Two of the families, who carried a mutation that altered the same amino acid building block of the dynamin 2 protein, also shared a deficiency of white blood cells, a condition not previously linked to CMT, the researchers reported. (dukehealth.org)
A protein typically consists of several hundred amino acids in a precise sequence (termed its primary structure), much like a very long word written in a 20letter alphabet. (iresearchnet.com)
We used a strategy of intragenic suppression to test the hypothesis that amino acid substitutions in the putative drug binding domain at residue Y652 could compensate for protein folding abnormalities caused by class 2 LQT2 mutations. (elsevierpure.com)
It is a large gene that codes for a 2.273 amino-acid protein. (eyewiki.org)

As a result, affected individuals are not able to use these amino acids to produce other substances, such as vitamins and proteins. (medlineplus.gov)
In the body, these amino acids are used in the production of many other substances, including vitamins and proteins. (medlineplus.gov)
Twenty of the 100 known amino acids are the main building blocks for human proteins. (encyclopedia.com)
2016 marks the 10th anniversary of the Gordon Research Conference on Membrane Transport Proteins, which has been held every two years since 1998. (grc.org)
The conference will highlight translational aspects of membrane transport proteins as targets in neurological and psychiatric disorders as well as the gamut of human diseases including cardiovascular, diabetes and cancer. (grc.org)
Sessions will include emerging technologies in stem cells, proteomics, gene editing, and 3-D organoids in the context of their application to membrane transport proteins. (grc.org)
This GRC will be held in conjunction with the "Membrane Transport Proteins" Gordon Research Seminar (GRS). (grc.org)
The amino acids released from proteins during turnover can then be used for the synthesis of new proteins or for energy generation. (basicmedicalkey.com)
These problems may be compounded by a decreased ability to produce digestive enzymes and new intestinal epithelial cells because of a decreased availability of amino acids for the synthesis of new proteins. (basicmedicalkey.com)
2003-11-18 · The remaining, "non SLC" human transporter-related genes include those encoding ATP-driven transporters, channels, ionotropic receptors, aquaporins, transporter and channels subunits, auxiliary/regulatory transport proteins, etc. (see Fig. 1). (web.app)
Carrier proteins use a process called carrier mediated transport to assist molecules across the cell membrane. (web.app)
Systems used to automatically annotate proteins with high accuracy: UniRule (Expertly curated rules) Carrier proteins required for faciliated transport and active transport. (web.app)
Hydrophobic inner mitochondrial membrane proteins with internal targeting signals, such as the metabolite carriers, use the carrier translocase (TIM22 complex) for transport into the inner membrane. (web.app)
Carrier proteins are the other type of transport molecules found in the cell membrane. (web.app)
av N Petri · 2005 · Citerat av 2 - Involvement of Membrane Transport proteins in Intestinal Absorption and. (web.app)
23 May 2020 Carrier proteins are also used in active transport for the movement of molecules with the expense of energy. (web.app)
Such proteins could hypothetically be identiﬁed by complementary correlative studies, for example, by examining the nature of newly synthesized proteins on the basis of their incorporation of radiolabeled precursor amino acids during the period of LTM formation. (iresearchnet.com)
Proteins are biological macromolecules consisting of a linear array of 20 component -amino acids. (iresearchnet.com)
This overall conformation of proteins is largely dictated by the chemical properties of the individual amino acids in its primary structure. (iresearchnet.com)
The monomers that make up proteins are called amino acids . (cancerquest.org)

The branched chain amino acids, leucine, isoleucine, and valine, are essential amino acids containing aliphatic side chains of various lengths. (aacc.org)
Amino acid complex with all 8 essential amino acids plus L-arginine. (kingnature.ch)

Congenital hypothyroidism affects 1 in 3,000 to 1 in 4,000 infants, and 15% of these cases have been attributed to genetic defects. (nih.gov)
We review the literature to identify genetic defects involved in the iodination process of the thyroid hormone synthesis, particularly defects in iodide transport from circulation into the thyroid cell, defects in iodide transport from the thyroid cell to the follicular lumen (Pendred syndrome), and defects of iodide organification. (nih.gov)
Earlier research had linked this "intermediate" form of the disease to unknown genetic defects at three different chromosomal locations. (dukehealth.org)

Defects of amino acid transport in the renal tubule include cystinuria and Hartnup disease, which are discussed elsewhere. (msdmanuals.com)
The intestinal absorption defect in cystinuria. (medscape.com)
This inherited defect is named as cystinuria where a natural substance called the cystine leaks in your urine, forming casts called cystine stones. (frontersupport.com)

disorders caused by deficiency of one or more subunits of a dehydrogenase active in the 2nd step of branched-chain amino acid catabolism. (msdmanuals.com)

Carbamoyl phosphate synthetase I (CPS I) deficiency: This defect is inherited in an autosomal recessive pattern. (medscape.com)
Deficiency of this dehydrogenase results in isovaleric acidemia, also known as "sweaty feet" syndrome, because accumulated isovaleric acid emits an odor that smells like sweat. (msdmanuals.com)
Several primary dopamine synthesis disorders are also reported, including tyrosine hydroxylase deficiency, aromatic L-amino acid dopa-decarboxylase (AADC) deficiency, pterin defects (GTPCH, SR, and PTPS), vesicular monoamine transporter (VMAT2) deficiency, and DNAJC12 deficiency. (encyclopedia.pub)
We studied the defect responsible for deficiency of the b subunit for factor XIII in the first known case of this condition. (embl.de)
Their findings also reveal a previously unknown link between CMT and a deficiency of white blood cells, suggesting that defects in dynamin 2 might underlie both conditions, the researchers reported in the Jan. 30, 2005, issue of Nature Genetics . (dukehealth.org)

Urine tests are also used to monitor specific amino acid disorders. (encyclopedia.com)
Newborns are screened for amino acid disorders. (encyclopedia.com)
Two types of amino acid screening tests are used together to diagnose amino acid disorders. (encyclopedia.com)
The diagnosis of these disorders is almost exclusively based on clinical signs and symptoms leading to measurement of metabolites in CSF, specifically the quantitative determination of the neurotransmitters or their metabolites, that is the amino acids glutamate, glycine and GABA, the acidic metabolites of the biogenic monoamines, and tetrahydrobiopterin metabolites. (novapublishers.com)
Whilst the majority of the identified disorders are due to inherited enzyme deficiencies, defects in transport of active compounds (transpotopathies) have been reported very recently. (novapublishers.com)
Defects in this transport pathway have been associated with neurodegenerative disorders. (web.app)
Also, he said, the findings bring a better understanding of the types of defects that might, in general, lead to peripheral nerve disorders. (dukehealth.org)

An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES . (bvsalud.org)

CVM is the first genetic disorder found to be caused by defects in the SLC35A3 gene. (wikipedia.org)
The disorder is due to a defect in the transport of amino acids including one called cystine. (pediatricshealthcenter.com)
A defect in the ubiquitous gene dynamin 2 underlies one form of the prevalent, familial nerve disorder, known as Charcot-Marie-Tooth disease (CMT). (dukehealth.org)

Secondary or renal aminoaciduria occurs because of a congenital defect in the amino acid transport system in the tubules of the kidneys. (encyclopedia.com)
Cystine, which is less soluble than the other amino acids, precipitates in the urine to form renal stones (also known as calculi). (basicmedicalkey.com)
Caused by a defect in the renal and intestinal transport system for lysine and for ornithine and arginine (dibasic amino acid transport). (mhmedical.com)

Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport. (medscape.com)
It is common in patients with an inherited defect in amino acid transport, manifesting as recurrent cystine stones among young patients. (frontersupport.com)

[ 5 ] These defects were largely problems in the catabolism of lipids and amino acids or in the rapid breakdown of glycogen. (medscape.com)

The findings suggest that supplements of the amino acids glutamine and leucine might help reverse the defects caused by these mutations. (nih.gov)
The scientists are now planning to assess the effect of supplemental glutamine and leucine, another amino acid that activates mTORC1, in people with severe eczema. (nih.gov)
Diagnosis of maple syrup urine disease is by finding elevated plasma levels of branched-chain amino acids (particularly leucine) and confirmed by genetic testing. (msdmanuals.com)

Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. (nih.gov)
It is an autosomal recessive disease characterized by defective transport of the dibasic amino acids. (mhmedical.com)

Primary or overflow aminoaciduria results from deficiencies in the enzymes necessary to metabolize amino acids. (encyclopedia.com)
Defects in other enzymes more distal in the pathway are responsible for several organic acidurias. (aacc.org)
Further cleavage of the oligopeptides to amino acids is accomplished by enzymes produced by the intestinal epithelial cells. (basicmedicalkey.com)

Some congenital amino acid metabolic defects cause mental retardation that can prevented with prompt treatment of the newborn. (encyclopedia.com)
Thus, enzyme defects in this pathway result in reduced capacity to produce metabolic fuels and can lead to phenotypes ranging from mild to lethal. (aacc.org)
By the mid 1960s, defects that led to the accumulation of metabolic products in the urine, blood, or neural tissues were identified. (medscape.com)
Folate and folic acid are forms of a water-soluble B vitamin that plays a fundamental role in various metabolic processes within the body. (nutriscape.net)

Fanconi's findings were confirmed in 1943 by McCune et al and in 1947 by Dent, who established that the organic acids originated in the kidneys. (medscape.com)

Nucleic Acids Res 44:D1167-D1171, 2016). (bvsalud.org)

Episodic headaches and cyclic vomiting may, rarely, be found to be caused by urea cycle defects. (medscape.com)

Because of perchlorate inhibition of iodide uptake, it is biologically plausible that chronic ingestion of perchlorate through contaminated sources may cause some degree of iodine discharge in populations that are genetically susceptible to defects in the iodination process of the thyroid hormone synthesis, thus deteriorating their conditions. (nih.gov)
Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. (nih.gov)
in contrast to adult patients, many affected children are found to have an underlying genetic aetiology, leading either to dopaminergic neurodegeneration or the impairment of dopamine synthesis, breakdown, or transport [ 3 ] . (encyclopedia.pub)

Genome-wide association studies have identified SLC6A14, an electrogenic amino acid transporter, as a genetic modifier of CF-associated meconium ileus. (nih.gov)
This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. (nih.gov)

As a result, specific amino acids cannot be taken in by cells and are instead removed from the body as waste. (medlineplus.gov)
Also, if the results are abnormal, a 24-hour urine test is performed along with other tests to determine the levels of specific amino acids. (encyclopedia.com)

Transmission is autosomal recessive, with the defect linked to chromosome 14q11.2. (mhmedical.com)

Body Structure C99147 Neonatal Research Network Terminology C98700 Abdominal Hernia Hernia of Abdominal Wall The protrusion of abdominal contents through a congenital or acquired defect in the abdominal wall. (nih.gov)

People with Hartnup disease have high levels of various amino acids in their urine (aminoaciduria). (medlineplus.gov)

In its presence, ornithine combines with carbamoyl phosphate to form citrulline, which is then transported out of the mitochondria. (medscape.com)

These are the first findings to demonstrate that a single amino acid substitution in the putative KCNH2 drug binding domain can cause intragenic suppression of several LQT2 mutations. (elsevierpure.com)

In the case of some hemoglobin variants, demonstrating substitutions of one or another amino acid was actually possible. (medscape.com)

In alkaptonuria, homogentisic acid derived from tyrosine and phenylalanine is excreted in the urine and deposited in cartilage (ochronosis). (hekint.org)

MTHFR stands for Methylenetetrahydrofolate Reductase, an enzyme that plays a critical role in converting folic acid into its active form, methylfolate. (nutriscape.net)
The G6Pase-α and G6PT complexes are functionally coupled as follow: G6PT1 transports G6P from the cellular cytosol into the lumen of the endoplasmic reticulum, where G6P is hydrolyzed to glucose and inorganic phosphate by G6Pase-α enzyme [ 3 ]. (biomedcentral.com)

He was the fourth son of Sir Alfred Baring Garrod, MD FRS (1819-1907), an eminent physician known for his work on arthritis, who in 1848 showed and measured the excess of uric acid in the blood of gouty patients. (hekint.org)
Uric acid stones are also fairly common among the population. (frontersupport.com)
These stones can be mainly caused by an increase in consumption of food rich in uric acid such as anchovies, seafood, and green vegetables like spinach. (frontersupport.com)
Apart from that, it can be also caused by gouty arthritis where your serum uric acid levels spike up sky high leading to its predisposition as stones in the kidney. (frontersupport.com)
Uric acid stones are difficult to be diagnosed and identified because most of them are radiolucent stones which means they can't be visible under a plain kidney, ureter, and bladder radiograph. (frontersupport.com)
Other tests like intravenous urogram or kidney ultrasound are commonly used in clinical practice to diagnose uric acid stones. (frontersupport.com)
Find doctor and your pure uric acid stones can be easily removed medically through medical expulsive therapy and chemolysis. (frontersupport.com)

Folic acid, the synthetic form of folate, is often included in supplements and fortified foods. (nutriscape.net)
And if folic acid supplements are right for you, this article will show you the right forms to look for as well as the best place to buy folic acid online. (nutriscape.net)
While folate naturally occurs in a variety of foods like leafy green vegetables, fruits, and legumes, folic acid is the synthetic form that's often added to supplements and fortified foods like cereals and bread. (nutriscape.net)
In the body, both folate and folic acid need to be converted to their active form, known as methylfolate, to carry out these functions effectively. (nutriscape.net)
It's a good option for people who have difficulty converting folic acid into its active form due to genetic factors. (nutriscape.net)
It doesn't require the same conversion steps as folic acid but is not as readily available as folic acid or methylfolate in supplement form. (nutriscape.net)
These may contain a mix of folic acid, methylfolate, and possibly other forms, sometimes along with other B-vitamins or nutrients. (nutriscape.net)
Mutations in the MTHFR gene can impair their ability to convert folic acid into its active form, methylfolate. (nutriscape.net)
For those with an MTHFR gene mutation, taking regular folic acid supplements is not as beneficial because their bodies struggle to convert it into the usable form of folate. (nutriscape.net)
If you aren't able to work within this time-span, then try for at least one month so that you can build up adequate stores of folic acid and other vital nutrients. (huggies.com)

The structure of the simplest amino acid , glycine, is shown below. (cancerquest.org)

At that time, alkaptonuria was supposed to be caused by an infecting organism in the intestines, which converted tyrosine into homogentisic acid. (hekint.org)

Both genes are important in the autophagic-lysosomal pathway (ALP), defects of which are associated with α-synuclein (α-syn) accumulation. (biomedcentral.com)

G6PT codes for 429 amino-acid peptide, predicted to contain ten transmembrane endoplasmic reticulum domains. (biomedcentral.com)
The amino acids are joined in chemically stable peptide linkages that are not easily disrupted by thermal, chemical or mechanical stresses encountered by living cells. (iresearchnet.com)

Develop a biological knowledge base common to contemporary biologists, encompassing microscopy, cell structure, cellular membranes, and nucleic acids biology. (uaeu.ac.ae)
They aid in transporting materials across cellular membranes. (cancerquest.org)

Mutations in the KCNH2 or human ether-a-go-go-related gene-encoded K + channel reduce functional KCNH2 current (I KCNH2 ) to cause long QT syndrome (LQT2) by multiple mechanisms, including defects in intracellular transport (trafficking). (elsevierpure.com)

Analog dazu war der elektrogene Transport im isolierten proximalen Tubulus für Glucose sowie für Phenylalanin, Glutamin und Prolin vermindert. (uni-tuebingen.de)
Faciliated Transport Passage of molecules such as glucose and amino acids across the plasma membrane, even though they are not lipid soluble. (web.app)

The mutant b subunit was secreted from the cells much less effectively than the wild type and remained susceptible to endoglycosidase H, indicating that it was not transported from the endoplasmic reticulum to the Golgi apparatus where the processing of oligosaccharides occurs. (embl.de)

Because these amino acids are removed from the body without being used, people with this condition may be lacking (deficient) in certain amino acids and vitamins. (medlineplus.gov)

This is crucial to further elucidate the mechanisms through which chemical exposure can perturb redox homeostasis, causing oxidative stress, and potentially birth defects. (nih.gov)

Young children with acidosis (accumulation of acid in the body), severe vomiting and diarrhea, or urine with an abnormal color or odor, are also screened with a urine test for specific amino acid levels. (encyclopedia.com)
It is caused by defects in any of the 3 BCKDHc subunits, resulting in an accumulation of the 2-oxoacids: 2- oxo-isovalerate, 2-oxo-3-methylvalerate, and 2-oxoisocaproate, which spill over into the urine. (aacc.org)

Involved in the transport of L-arginine in monocytes. (nih.gov)

One particular amino acid transported by B 0 AT1, tryptophan, is needed to produce vitamin B3 (also known as niacin). (medlineplus.gov)
Ussing-Kammer-Experimente zeigten einen reduzierten elektrogenen Transport für Glukose sowie für die Aminosäuren Phenylalanin, Cystein, Glutamin, Prolin, Leucin und Tryptophan in pdk1hm -Mäusen verglichen mit pdk1wt Mäusen. (uni-tuebingen.de)

Defects in the branched chain ketoacid dehydrogenase complex are responsible for maple syrup urine disease. (aacc.org)

To further narrow the search for causes, the Duke team screened three unrelated families, with intermediate CMT linked to one of those chromosomal regions, for defects in candidate disease genes. (dukehealth.org)

In the intestines, amino acids from food are transported into intestinal cells then released into the bloodstream so the body can use them. (medlineplus.gov)

soon after, Debre et al found large amounts of organic acids in the urine of an 11-year-old girl. (medscape.com)
Therefore, his urine contained high amounts of these amino acids. (basicmedicalkey.com)

Fanconi's further contribution to the subject came in 1936, when he recognized the similarities between these cases, added 2 new patients to the list, named the disease nephrotic-glucosuric dwarfism with hypophosphatemic rickets , and suggested that the organic acids found in the urine may be amino acids. (medscape.com)
The transported solutes may be small organic molecules or inorganic ions. (web.app)

We found that disruption of Slc6a14 worsened the intestinal fluid secretion defect, characteristic of these mice. (nih.gov)
Using this technique, the amino acids form a characteristic patterns on a glass plate coated with a thin layer of silica gel . (encyclopedia.com)

Numerous symporters and antiporters affect the transport of solutes across the apical membrane of proximal tubule cells. (medscape.com)

Defects in amino acid transport can lead to disease. (basicmedicalkey.com)
The disease can be treated with high doses of aspirin (salicylic acid) and gammaglobulin. (pediatricshealthcenter.com)

She participated in demonstrating that the environmental pollutant perchlorate (ClO4-) is actively transported by NIS, and that NIS mediates this translocation with a 1Na+:1ClO4- stoichiometry rather than the 2 Na+:1 anion stoichiometry that characterizes NIS-mediated I- transport. (thyroid.org)

The membrane of the lens fiber cells play an important role in the maintenance of homeostasis as it is involved in transport of water, ions, and energy for lens fiber cells. (molvis.org)
Research shows that these signs are a result of a permanent defect in ion transport across the skeletal muscle cell membrane, resulting in increased sodium permeability, reduced polarization, and thus changes in muscle excitability. (purdue.edu)
Hepatic carrier-mediated membrane transport of the compounds. (web.app)

Severe atopic dermatitis is a less common form of eczema that can be severely debilitating and may also be accompanied by frequent infections and severe immune system defects. (nih.gov)

Anatomy32

Organisms13

Diseases10

Chemicals and Drugs124

Analytical, Diagnostic and Therapeutic Techniques and Equipment24

Phenomena and Processes54

Information Science4

Health Care1

Metabolism18

Protein35

Proteins20

Essential amino2

Genetic defects3

Cystinuria3

Branched Chain Amino Aci1

Deficiency5

Disorders7

Absorption1

Disorder3

Renal3

Cystine2

Catabolism1

Leucine3

Dibasic2

Enzymes3

Metabolic4

Kidneys1

Nucleic Aci1

Urea cycle defects1

Synthesis3

Transporter2

Specific amino acids2

Autosomal recessive1

Congenital1

Hartnup1

Ornithine1

Single amino acid1

Another amino acid1

Phenylalanine1

Enzyme2

Uric acid7

Folic acid10

Glycine1

Homogentisic acid1

Pathway1

Peptide2

Cellular membranes2

Intracellular transport1

Glucose2

Endoplasmic reticulum1

Deficient1

Birth defects1

Accumulation2

Arginine1

Tryptophan2

Maple syrup u1

Chromosomal1

Intestines1

Amounts2

Organic2

Characteristic2

Solutes1

Disease2

Translocation1

Membrane3

Severe1