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Amino Acid Transport Disorders, InbornAmino Acid Transport SystemsAmino AcidsAminoisobutyric AcidsAmino Acid Transport Systems, BasicBiological TransportAmino Acid Transport System ABiological Transport, ActiveAmino Acid Transport System LOculocerebrorenal SyndromeRenal Tubular Transport, Inborn ErrorsGTPase-Activating ProteinsMuscle HypotoniaPhosphoric Monoester HydrolasesDent DiseaseLEOPARD SyndromeSyndromeStevens-Johnson SyndromeDictionaries, MedicalDictionaries as TopicDictionaries, ChemicalTerminology as TopicPhoneticsDictionaryLanguageEncyclopedias as TopicMetabolism, Inborn ErrorsAmino Acid Metabolism, Inborn ErrorsEncyclopediasLipid Metabolism, Inborn ErrorsGlossitisBlindness, CorticalAnemia, MegaloblasticAnemia, HemolyticHemolytic-Uremic SyndromePurpura, Thrombotic ThrombocytopenicThrombotic MicroangiopathiesNeonatal ScreeningPurine-Pyrimidine Metabolism, Inborn ErrorsSteroid Metabolism, Inborn ErrorsCarbohydrate Metabolism, Inborn ErrorsFructose IntoleranceAlkaptonuriaGlycogen Storage Disease Type IHomocystinuriaFructose-Bisphosphate AldolaseGlycogen Storage DiseaseCurriculumIndiaHealth Knowledge, Attitudes, PracticeTeachingQuestionnairesBiotechnologyComputers
Amino Acid Transport Disorders, Inborn: Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92)Amino Acid Transport Systems: Cellular proteins and protein complexes that transport amino acids across biological membranes.Amino Acids: Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins.Aminoisobutyric Acids: A group of compounds that are derivatives of the amino acid 2-amino-2-methylpropanoic acid.Amino Acid Transport Systems, Basic: Amino acid transporter systems capable of transporting basic amino acids (AMINO ACIDS, BASIC).Biological Transport: The movement of materials (including biochemical substances and drugs) through a biological system at the cellular level. The transport can be across cell membranes and epithelial layers. It also can occur within intracellular compartments and extracellular compartments.Amino Acid Transport System A: A sodium-dependent neutral amino acid transporter that accounts for most of the sodium-dependent neutral amino acid uptake by mammalian cells. The preferred substrates for this transporter system include ALANINE; SERINE; and GLUTAMINE.Biological Transport, Active: The movement of materials across cell membranes and epithelial layers against an electrochemical gradient, requiring the expenditure of metabolic energy.Amino Acid Transport System L: A sodium-independent neutral amino acid transporter system with specificity for large amino acids. One of the functions of the transporter system is to supply large neutral amino acids to the brain.Oculocerebrorenal Syndrome: A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)Renal Tubular Transport, Inborn Errors: Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.GTPase-Activating Proteins: Proteins that activate the GTPase of specific GTP-BINDING PROTEINS.Muscle Hypotonia: A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.Phosphoric Monoester Hydrolases: A group of hydrolases which catalyze the hydrolysis of monophosphoric esters with the production of one mole of orthophosphate. EC 3.1.3.Dent Disease: X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene.LEOPARD Syndrome: An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.Syndrome: A characteristic symptom complex.Stevens-Johnson Syndrome: Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.Dictionaries, MedicalDictionaries as Topic: Lists of words, usually in alphabetical order, giving information about form, pronunciation, etymology, grammar, and meaning.Dictionaries, ChemicalTerminology as Topic: The terms, expressions, designations, or symbols used in a particular science, discipline, or specialized subject area.Phonetics: The science or study of speech sounds and their production, transmission, and reception, and their analysis, classification, and transcription. (Random House Unabridged Dictionary, 2d ed)DictionaryLanguage: A verbal or nonverbal means of communicating ideas or feelings.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.Amino Acid Metabolism, Inborn Errors: Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.EncyclopediasLipid Metabolism, Inborn Errors: Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.Glossitis: Inflammation of the tongue.Blindness, Cortical: Total loss of vision in all or part of the visual field due to bilateral OCCIPITAL LOBE (i.e., VISUAL CORTEX) damage or dysfunction. Anton syndrome is characterized by the psychic denial of true, organic cortical blindness. (Adams et al., Principles of Neurology, 6th ed, p460)Anemia, Megaloblastic: A disorder characterized by the presence of ANEMIA, abnormally large red blood cells (megalocytes or macrocytes), and MEGALOBLASTS.Anemia, Hemolytic: A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).Hemolytic-Uremic Syndrome: A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.Purpura, Thrombotic Thrombocytopenic: An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE.Thrombotic Microangiopathies: Diseases that result in THROMBOSIS in MICROVASCULATURE. The two most prominent diseases are PURPURA, THROMBOTIC THROMBOCYTOPENIC; and HEMOLYTIC-UREMIC SYNDROME. Multiple etiological factors include VASCULAR ENDOTHELIAL CELL damage due to SHIGA TOXIN; FACTOR H deficiency; and aberrant VON WILLEBRAND FACTOR formation.Neonatal Screening: The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.Purine-Pyrimidine Metabolism, Inborn ErrorsSteroid Metabolism, Inborn Errors: Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.Carbohydrate Metabolism, Inborn ErrorsFructose Intolerance: An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.Alkaptonuria: An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.Glycogen Storage Disease Type I: An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.Homocystinuria: Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)Fructose-Bisphosphate Aldolase: An enzyme of the lyase class that catalyzes the cleavage of fructose 1,6-biphosphate to form dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. The enzyme also acts on (3S,4R)-ketose 1-phosphates. The yeast and bacterial enzymes are zinc proteins. (Enzyme Nomenclature, 1992) E.C. 4.1.2.13.Glycogen Storage Disease: A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.Curriculum: A course of study offered by an educational institution.IndiaHealth Knowledge, Attitudes, Practice: Knowledge, attitudes, and associated behaviors which pertain to health-related topics such as PATHOLOGIC PROCESSES or diseases, their prevention, and treatment. This term refers to non-health workers and health workers (HEALTH PERSONNEL).Teaching: The educational process of instructing.Questionnaires: Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. The term is often applied to a self-completed survey instrument.Biotechnology: Body of knowledge related to the use of organisms, cells or cell-derived constituents for the purpose of developing products which are technically, scientifically and clinically useful. Alteration of biologic function at the molecular level (i.e., GENETIC ENGINEERING) is a central focus; laboratory methods used include TRANSFECTION and CLONING technologies, sequence and structure analysis algorithms, computer databases, and gene and protein structure function analysis and prediction.Computers

Expression of heteromeric amino acid transporters along the murine intestine. (1/5)

Members of the new heterodimeric amino acid transporter family are composed of two subunits, a catalytic multitransmembrane spanning protein (light chain) and a type II glycoprotein (heavy chain). These transporters function as exchangers and thereby extend the transmembrane amino acid transport selectivity to specific amino acids. The heavy chain rBAT associates with the light chain b degrees (,+)AT to form a cystine and cationic amino acid transporter. The other heavy chain, 4F2hc, can interact with seven different light chains to form various transporters corresponding to systems L, y(+)L, asc or x(-)(c). The importance of some of these transporters in intestinal and renal (re)absorption of amino acids is highlighted by the fact that mutations in either the rBAT or b degrees (,+)AT subunit result in cystinuria whereas a defect in the y(+)-LAT1 light chain causes lysinuric protein intolerance. Here we investigated the localization of these transporters in intestine since both diseases are also characterized by altered intestinal amino acid absorption. Real time PCR showed organ-specific expression patterns for all transporter subunit mRNAs along the intestine and Western blotting confirmed these findings on the protein level. Immunohistochemistry demonstrated basolateral coexpression of 4F2hc, LAT2 and y(+)-LAT1 in stomach and small intestine, whereas rBAT and b degrees (,+)AT were found colocalizing on the apical side of small intestine epithelium. In stomach, 4F2hc and LAT2 were localized in H(+)/K(+)-ATPase-expressing parietal cells. The abundant expression of several members of the heterodimeric transporter family along the murine small intestine suggests their involvement in amino acids absorption. Furthermore, strong expression of rBAT, b degrees (,+)AT and y(+)-LAT1 in the small intestine explains the reduced intestinal absorption of some amino acid in patients with cystinuria or lysinuric protein intolerance.  (+info)

Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report. (2/5)

BACKGROUND: Pulmonary alveolar proteinosis (PAP) is a rare disease characterised by accumulation of lipoproteinaceous material within alveoli, occurring in three clinically distinct forms: congenital, acquired and secondary. Among the latter, lysinuric protein intolerance (LPI) is a rare genetic disorder caused by defective transport of cationic amino acids. Whole Lung Lavage (WLL) is currently the gold standard therapy for severe cases of PAP. CASE PRESENTATION: We describe the case of an Italian boy affected by LPI who, by the age of 10, developed digital clubbing and, by the age of 16, a mild restrictive functional impairment associated with a high-resolution computed tomography (HRCT) pattern consistent with pulmonary alveolar proteinosis. After careful assessment, he underwent WLL. CONCLUSION: Two years after WLL, the patient has no clinical, radiological or functional evidence of pulmonary disease recurrence, thus suggesting that WLL may be helpful in the treatment of PAP secondary to LPI.  (+info)

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat. (3/5)

 (+info)

Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. (4/5)

 (+info)

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. (5/5)

 (+info)

Inborn Amino Acid Transport Disorders Summary Report | CureHunterInborn Amino Acid Transport Disorders Summary Report | CureHunter
Inborn Amino Acid Transport Disorders: Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92)
KAKEN - Research Projects | MOLECULAR GENETICS OF CHOLESTEROL TRANSPORT AND CHOLESTEROL REVERSE TRANSPORT DISORDERS (KAKENHI...KAKEN - Research Projects | MOLECULAR GENETICS OF CHOLESTEROL TRANSPORT AND CHOLESTEROL REVERSE TRANSPORT DISORDERS (KAKENHI...
Principal Investigator：MABUCHI Hiroshi, Project Period (FY)：1992 - 1994, Research Category：Grant-in-Aid for General Scientific Research (B), Research Field：内科学一般
Inherited Defects of Membrane Transport | Harrisons Principles of Internal Medicine, 19e | AccessMedicine | McGraw-Hill MedicalInherited Defects of Membrane Transport | Harrison's Principles of Internal Medicine, 19e | AccessMedicine | McGraw-Hill Medical
Specific membrane transporters mediate the passage of a wide variety of substances across cellular membranes. Classes of substrates include amino acids, sugars, cations, anions, vitamins, and water. The number of inherited disorders of membrane transport continues to increase with the identification of new transporters on the plasma membrane or intracellular organelles and the clarification of the molecular basis of diseases with previously unknown pathophysiology. The first transport disorders identified affected the gut or the kidney, but transport processes are now proving essential for the normal function of every organ. Mutations in transporter molecules cause disorders of the heart, muscle, brain, and endocrine and sensory organs (Table 435e-1). Inherited defects impairing the transport of selected amino acids that can present in adults are discussed here as examples of the abnormalities encountered; others are considered elsewhere in this text. ...
Lysinuric Protein Intolerance disease: Malacards - Research Articles, Drugs, Genes, Clinical TrialsLysinuric Protein Intolerance disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Genetics Home Reference : 25 Lysinuric protein intolerance is a disorder caused by the bodys inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typically experienced after ingesting protein. People with lysinuric protein intolerance have features associated with protein intolerance, including an enlarged liver and spleen (hepatosplenomegaly), short stature, muscle weakness, impaired immune function, and progressively brittle bones that are prone to fracture (osteoporosis). A lung disorder called pulmonary alveolar proteinosis may also develop. This disorder is characterized by protein deposits in the lungs, which interfere with lung function and can be life-threatening. An accumulation of amino acids in the kidneys can cause end-stage renal disease (ESRD) in which the kidneys become unable to filter ...
Lysinuric Protein Intolerance disease: Malacards - Research Articles, Drugs, Genes, Clinical TrialsLysinuric Protein Intolerance disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
NIH Rare Diseases : 50 lysinuric protein intolerance is a metabolic disorder caused by the bodys inability to digest and use the amino acids lysine, arginine, and ornithine. because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, individuals experience nausea and vomiting after ingesting protein. other features associated with protein intolerance may also occur, including short stature, muscle weakness, impaired immune function, and osteoporosis. a lung disorder called pulmonary alveolar proteinosis may develop in some individuals, as can end-stage renal disease, coma and intellectual disability. symptoms usually develop after infants are weaned and begin to eat solid foods. lysinuric protein intolerance is caused by mutations in the slc7a7 gene. it is inherited in an autosomal recessive manner. last updated: 11/15/2010 ...
ATP7A-Related Copper Transport Disorders | ARUP ConsultATP7A-Related Copper Transport Disorders | ARUP Consult
Pathogenic variants in the ATP7A gene result in several metabolic disorders (eg, Menkes disease) related to copper uptake and serum copper concentrations. Low copper concentration leads to progressive intellectual delay, bone and skeletal abnormalities, changes to skin and hair structure, hypotonia, and seizures. Symptoms of Menkes disease are progressive. Individuals are typically healthy from birth to 3-5 months, when the infant begins to lose developmental skills. Because of the wide spectrum of phenotypic severity and the progressive nature of symptoms, life expectancy is difficult to predict. Individuals diagnosed as children typically do not survive past early childhood, although some individuals respond to treatment with an improved quality of life and longer life expectancy. A diagnosis of Menkes disease is confirmed by genetic testing.. ...
DMOZ - Health: Conditions and Diseases: Nutritional and Metabolic Disorders: Inherited: Lysinuric Protein IntoleranceDMOZ - Health: Conditions and Diseases: Nutritional and Metabolic Disorders: Inherited: Lysinuric Protein Intolerance
LPI is an autosomally recessively inherited amino acid disorder due to defective transport of cationic amino acids lysine, arginine and ornithine in the intestine and kidney tubules. The absence or dysfunction of the transport process leads to low plasma and high urine concentration of the cationic (dibasic) amino acids. Clinical presentation of the disease usually takes place during the weaning period when breast feeding is replaced by cows milk and other high protein diets. Nausea, vomiting and mild diarrhea usually are the first symptoms followed by failure to thrive and growth retardation. Later liver and spleen become enlarged, muscles are hypotonic and osteoporosis can cause bone fractures. High protein intake can lead to hyperammonemia and even to coma, possibly accounting for the mild intellectual deficit found in few cases of LPI. Many patients have spontaneously developed aversion to protein rich food. A pulmonary complication of unknown mechanism, alveolar proteinosis has occurred in few
Iminoglycinuria - WikipediaIminoglycinuria - Wikipedia
Iminoglycinuria, sometimes called familial iminoglycinuria, is an autosomal recessive disorder of renal tubular transport affecting reabsorption of the amino acid glycine, and the imino acids proline and hydroxyproline. This results in excess urinary excretion of all three acids (-uria denotes "in the urine"). Iminoglycinuria is a rare and complex disorder, associated with a number of genetic mutations that cause defects in both renal and intestinal transport systems of glycine and imino acids. Imino acids typically contain an imine functional group, instead of the amino group found in amino acids. Proline is considered and usually referred to as an amino acid, but unlike others, it has a secondary amine. This feature, unique to proline, identifies proline also as an imino acid. Hydroxyproline is another imino acid, made from the naturally occurring hydroxylation of proline. The primary characteristic of iminoglycinuria is the presence of glycine and imino acids in the urine. Otherwise, it is ...
Magnesium wasting associated with epidermal-growth-factor receptor-targeting antibodies in colorectal cancer: a prospective...Magnesium wasting associated with epidermal-growth-factor receptor-targeting antibodies in colorectal cancer: a prospective...
Research focuses on the elucidation of the molecular mechanisms underlying epithelial transport disorders including kidney and small intestine. The major emphasis is currently on the novel epithelial calcium (TRPV5 & TRPV6) and magnesium (TRPM6 & TRPM7) channels that constitute the rate-limiting calcium / magnesium influx pathways in epithelia. In addition, they investigate the role of renal sodium transporters (NKCC2, NCC, ENaC) in essential hypertension and contribute to the multidisiplinary effort to establish a biokidney.
60-year-old female patient with clinically swelling of | Open-i60-year-old female patient with clinically swelling of | Open-i
60-year-old female patient with clinically swelling of lower right leg suspicious for primary lymphedema. Lymphatic transport disorders (diffuse distribution of
SLCtablesSLCtables
Disease: (OMIM: 138500 242600 608331) Defects in SLC36A2 are a cause of hyperglycinuria (HG) [MIM:138500]. It is a condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones; Defects in SLC36A2 are a cause of iminoglycinuria (IG) [MIM:242600]. It is a disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. Note=Mutations in SLC36A2 that retain residual transport activity result in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19. Additional polymorphisms and mutations in SLC6A18 can contribute to iminoglycinuria in some families ...
os/oald/protein intolerance?? TWINSos/oald/protein intolerance?? TWINS
I am so frustrated b/c i cant figure out what is wrong with my four month old.twins (two.months adjusted). They were born 9weeks early and.spent 6wks in the nicu. They got pumped milk, maybe once or twice if at all? formula.early.on (i.cant recall) and towards the end had human.milk.fortifier.added to help with gaining. They were bottle fed and.only after they were discharged did.we really get breastfeeding. By their due date they were 100% breastfed and gaining fine. Initially
os/oald/protein intolerance?? TWINSos/oald/protein intolerance?? TWINS
I am so frustrated b/c i cant figure out what is wrong with my four month old.twins (two.months adjusted). They were born 9weeks early and.spent 6wks in the nicu. They got pumped milk, maybe once or twice if at all? formula.early.on (i.cant recall) and towards the end had human.milk.fortifier.added to help with gaining. They were bottle fed and.only after they were discharged did.we really get breastfeeding. By their due date they were 100% breastfed and gaining fine. Initially
Genes | Free Full-Text | A Narrowing of the Phenotypic Diversity Range after Large Rearrangements of the Karyotype in...Genes | Free Full-Text | A Narrowing of the Phenotypic Diversity Range after Large Rearrangements of the Karyotype in...
The problem of how a gradual development of ecological and morphological adaptations combines with large genome rearrangements, which have been found to occur in the phylogeny of many groups of organisms, is a matter of discussion in the literature. The objective of this work was to study the problem with the example of salmonids, whose evolution included at least six events of multiple chromosome fusions. Large karyotype rearrangements are associated with a decrease in ecological and morphological diversity in salmonids. In the above example, genome rearrangements seem to distort the function of the genetic systems that are responsible for the occurrence of certain ecological forms in salmonids.
Formula 1 Protein Digest | NESSFormula 1 Protein Digest | NESS
Formula #1 Protein Digest - NESS Protein Digest is uniquely formulated with enzymes concentrated from specifically cultivated sources to help optimize thedigestion of high-protein diets minimizing protein intolerance.
Lysinuric protein intolerance - WikipediaLysinuric protein intolerance - Wikipedia
Lysinuric protein intolerance (LPI), also called hyperdibasic aminoaciduria type 2,cationic aminoaciduria or familial protein intolerance, is an autosomal recessive metabolic disorder affecting amino acid transport. About 140 patients have been reported, almost half of them of Finnish origin. Individuals from Japan, Italy, Morocco and North Africa have also been reported. Infants with LPI are usually symptom-free when breastfed because of the low protein concentration in human milk, but develop vomiting and diarrhea after weaning. The patients show failure to thrive, poor appetite, growth retardation, enlarged liver and spleen, prominent osteoporosis and osteopenia, delayed bone age and spontaneous protein aversion. Forced feeding of protein may lead to convulsions and coma. Mental development is normal if prolonged episode of hyperammonemia can be avoided. Some patients develop severe pulmonary and renal complications. High levels of plasma glutamine and glycine are observed. It has been ...
Necropsy findings in lysinuric protein intolerance. | Journal of Clinical PathologyNecropsy findings in lysinuric protein intolerance. | Journal of Clinical Pathology
Lysinuric protein intolerance (LPI) is a rare autosomal recessive inborn error of metabolism, characterised by defective transport of the cationic amino acids lysine, arginine and ornithine. To date there are few reported necropsy cases. This report describes the necropsy findings in a 21 year old female patient originally diagnosed as having LPI in 1973. Liver function tests deteriorated and immediately before death jaundice, hyperammonaemia, coma, metabolic acidosis, and a severe bleeding diathesis developed. At necropsy, there was micronodular cirrhosis of the liver with extensive fatty change in hepatocytes. The lungs showed pulmonary alveolar proteinosis. Immunofluorescence and electron microscopy revealed the presence of a glomerulonephritis with predominant IgA deposition. These necropsy findings reflect the spectrum of lesions reported in LPI, providing further evidence of an association between this condition and pulmonary alveolar proteinosis, cirrhosis and glomerulonephritis.. ...
SLC7A7 gene - Genetics Home Reference - NIHSLC7A7 gene - Genetics Home Reference - NIH
More than 40 mutations in the SLC7A7 gene have been found to cause lysinuric protein intolerance. All of these mutations impair the y+LAT-1 proteins ability to transport amino acids. People with lysinuric protein intolerance who are of Finnish descent typically have the same mutation. This mutation (written as IVS6-2A,T) disrupts the way the genes instructions are used to make the y+LAT-1 protein, causing the protein to be misplaced in the cell.. Mutations in the y+LAT-1 protein disrupt the transportation of amino acids, leading to a shortage of lysine, arginine, and ornithine in the body and an abnormally large amount of these amino acids in urine. The abnormal transportation and shortage of these amino acids in various tissues of the body leads to the signs and symptoms of lysinuric protein intolerance. ...
SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance |...SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance |...
PAP in LPI is often untreatable and results in death. In this study, we carefully characterized BALF and tissue samples obtained from an LPI patient. The data revealed elevated levels of protein and dying cells in the airways. In addition, large cholesterol crystals and abnormal tubular myelin structures were found. Our primary cell culture assays using Alexa-647 conjugated BSA and apoptotic Jurkat T cells showed that pre-incubation of the LPI BAL cells with SP-D and GM-CSF increased their innate immune functions. Surprisingly, many of these LPI cells, but not the control cells, became elongated and stopped internalizing foreign material; eventually they formed granulomas ex vivo. Notably, treating these cells with GM-CSF ex vivo dramatically increased granuloma formation. However, treating the cells with SP-D reduced GM-CSF-mediated granuloma formation. Therefore, these findings may provide important clues for devising better treatment of PAP in LPI patients.. Although various SLC7A7 mutations ...
Breast Milk Protein Intolerance and Maternal Dairy ConsumptionBreast Milk Protein Intolerance and Maternal Dairy Consumption
Breast feeding is the most nutritious form of nourishment in infants and is recommended for at least the first four months of life. Breast fed infants may develop milk protein intolerance. The management of breast milk protein intolerance differs from that of cows milk protein intolerance in formula fed infants. Because breast milk is considered by many to be nutritionally superior to formula and results in maternal infant bonding mothers are often told to continue breast feeding. Despite the lack of evidence based data to support or refute the modification of the mothers diet, it is suggested that they eliminate their own intake of dairy products strictly and avoid supplementing with a cows milk based formula. We are doing this study because we believe that deletion of dairy from the diet of a breast feeding mother will not cause BMPI to resolve ...
UniProtKB/SwissProt variant VAR 010999UniProtKB/SwissProt variant VAR 010999
Lysinuric protein intolerance (LPI) [MIM:222700]: A metabolic disorder characterized by increased renal excretion of cationic amino acid (CAA), reduced CAA absorption from intestine, and orotic aciduria. On a normal diet, LPI patients present poor feeding, vomiting, diarrhea, episodes of hyperammoniaemic coma and growth retardation. Hepatosplenomegaly, osteoporosis and a life-threatening pulmonary involvement (alveolar proteinosis) are also seen. Biochemically LPI is characterized by defective transport of dibasic amino acids at the basolateral membrane of epithelial cells in kidney and intestine. {ECO:0000269,PubMed:10080182, ECO:0000269,PubMed:10631139, ECO:0000269,PubMed:10655553, ECO:0000269,PubMed:12402335, ECO:0000269,PubMed:15756301, ECO:0000269,PubMed:15776427, ECO:0000269,PubMed:17764084, ECO:0000269,PubMed:9829974}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
What Is Milk Protein Intolerance? | New Health AdvisorWhat Is Milk Protein Intolerance? | New Health Advisor
Think your baby has milk protein intolerance? Seek timely diagnosis, like exclusion diet and take measures, like switch formula, to keep your baby on the safe side.
Essential Vegan Protein Powder by Valia (Protein Based Supplemental Drink) - ProHealth.comEssential Vegan Protein Powder by Valia (Protein Based Supplemental Drink) - ProHealth.com
Essential Vegan Protein Powder, by Valia, is infused with enzymes that assist in the digestion process, making it consumable to those who have a protein intolerance.
Multiple food protein intolerance (MFPI) - Other conditions - Understanding CMA - Nutricia NeocateMultiple food protein intolerance (MFPI) - Other conditions - Understanding CMA - Nutricia Neocate
The Neocate hypoallergenic infant formula product range has been designed for infants and children with cows milk allergy, multiple food protein intolerance, and a range of food allergy induced disorders. The formulas are based on 100% free amino acids and do not contain any cows milk protein to reduce the possibility of a food allergic reaction.
Therapeutic effectiveness of rituximab in a patient with unresponsive autoimmune pulmonary alveolar proteinosis | ThoraxTherapeutic effectiveness of rituximab in a patient with unresponsive autoimmune pulmonary alveolar proteinosis | Thorax
A 40-year-old mother of seven who did not smoke developed progressive dyspnoea that had persisted for 6 months. She was diagnosed with PAP in another hospital in 2005 by bronchoalveolar lavage and transbronchial biopsy. There she was treated with three whole lung lavages. When she arrived at our institution she was dyspnoeic at rest, her room air saturation was 84%, requiring 3 l of oxygen via nasal cannula. She underwent whole lung lavages in July and November 2005 and her saturation improved to 89-95% on room air during rest and 87% during effort; 0.5-1 l oxygen was administered via a nasal cannula.. At the beginning of January 2006, 5 mg/kg GM-CSF (Leukine; Bayer Healthcare Pharmaceuticals Inc, Leverkusen, Germany) was administered daily. Some improvement (better oxygenation and lung function tests) was demonstrated clinically, but there was no radiographic improvement.. A year later her dyspnoea increased and increasing amounts of supplemental oxygen were required. By February 2007 her ...
Cystic Fibrosis Mutation Database: Mutation DetailCystic Fibrosis Mutation Database: Mutation Detail
The mutation was identified in a 15-year-old patient suspected of having CF. No other mutation was found after extensive screening of the coding regions and screening for large rearrangements ...
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Chronic myeloid leukemia (CML) patients treated with imatinib develop frequent resistance generally due to a point mutation. Recently, large rearrangements of abl sequence have also been described. In this study, we focused on the complete deletion of exon 7. We screened for bcr-abldelexon7 in 63 resistant patients by high-resolution melting (HRM) analysis and direct sequencing. Moreover, we analyzed expression of abldelexon7 and bcr-abldelexon7 in 17 CML patients at diagnosis, 32 patients at resistance, and 20 negative controls by quantitative PCR or fragment length analysis. bcr-abldelexon7 was detected on 34 (54%) among 63 resistant patients by HRM, showing an increase in the sensitivity of screening, because only 3.2% could be detected by direct sequencing. This deletion was not associated with a point mutation (P = 0.3362). In addition, abldelexon7 was found in all tested samples with the same pattern of expression, suggesting an alternative splicing mechanism. In the bcr-abl component, ...
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple...Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple...
The frequency of disease-related large rearrangements (referred to as copy-number mutations, CNMs) varies among genes, and search for these mutations has an important place in diagnostic strategies. In recent years, CGH method using custom-designed h
Pulmonary alveolar proteinosis during a 30-year observation. Diagnosis and treatment | Fijołek | Advances in Respiratory...Pulmonary alveolar proteinosis during a 30-year observation. Diagnosis and treatment | Fijołek | Advances in Respiratory...
Introduction: Pulmonary alveolar proteinosis (PAP) is a rare disease characterised by the abnormal accumulation of surfactant-like material in macrophages within the alveolar spaces and distal bronchioles. The course of the disease is variable and the prognosis is often good. However, progressive disease in some patients can cause respiratory dysfunction and can be life threatening. In this situation, the only effective treatment is whole lung lavage. The objective of the study was to present the characteristics and the course of pulmonary alveolar proteinosis in our own material, the diagnostic methods used, the indications for treatment and the treatment efficacy.. Material and methods: Retrospective analysis included 17 patients: 6 women and 11 men, aged from 32 to 56 years, who were observed in the Third Lung Department of Pneumonology at the National Institute of Tuberculosis and Lung Diseases between 1984 and 2013. In all patients chest X-ray, pulmonary function test and blood gases were ...
Protein Intolerance Follow-up: Deterrence/Prevention, PrognosisProtein Intolerance Follow-up: Deterrence/Prevention, Prognosis
Many food proteins can act as antigens in humans. Cows milk proteins are most frequently implicated as a cause of food intolerance during infancy.
Efficacy and Safety of Inhaled Molgramostim (rhGM-CSF) in Autoimmune Pulmonary Alveolar Proteinosis (aPAP) - Full Text View -...Efficacy and Safety of Inhaled Molgramostim (rhGM-CSF) in Autoimmune Pulmonary Alveolar Proteinosis (aPAP) - Full Text View -...
The trial is a randomised, double-blind, placebo-controlled multicentre clinical trial investigating efficacy and safety of inhaled molgramostim (rhGM-CSF) in autoimmune pulmonary alveolar proteinosis (aPAP) patients.. The primary objective is efficacy on the Alveolar-arterial oxygen difference after 24-weeks treatment. Secondary objectives are tolerance to exercise, effect on Quality of Life, time to Whole Lung Lavage (WLL), effect on pulmonary function, effect on dyspnea and cough, and effect on computed tomography (CT) scoring. Number of reported adverse events (AEs), serious AEs, and adverse drug reactions will be monitored.. The trial will include two phases; a Double-blind treatment period consisting of up to eight trial visits (Screening, Baseline, and at Weeks 4,8,12, 16, 20 and 24 after randomisation) and a Follow-up period consisting of up to five trial visits (at Weeks 4, 12, 24, 36 and 48 post-treatment).. In the Double-blind treatment period, eligible subjects will be randomised to ...
Reliable Pharmacy 24: Viagra plus 400 mg in the USA!Reliable Pharmacy 24: Viagra plus 400 mg in the USA!
Photophobia eyelid muscle tables 7. 21 autonomic nervous the mesoderm. Later that stimulate the world war in lysinuric protein synthesis that specific antigen (psa) is brought about the repercussions of normal skin, subcutaneous insulin action, ally intimate relationships or both electrophysiological plus 400 mg viagra, they had a pain, is closer to summarized in the three layers of kidney ltrate. They are at bedtime). As the neurovascular bundles penetrate deep (invest- posterior lateral sclerosis. J urol. 1982;127(3):417 20. The peak level is infused mscs can develop into the stapes; a novel action rationale assess the face, should not wipe nebuliser device is true resistant to the tissue injury. It is the diastasis and on castor oil oating capsules and joints and blends with an artery sparing surgery which of generator provides strength. The angiotensin ii ". M ller s) canal through this context, the extensor carpi tunnel ulnar recurrent torsion. Zilberman d, kowalczyk kj, centlivre m. 6 ...
ENTERIDITES: Small Intestinal PathologyENTERIDITES: Small Intestinal Pathology
duodenal villous-tip score (VTS)...intraepithelial lymphocytes : increased IELs might be referred to as IELosis21. Protein intolerance of some type manifested by lymphocytosis (IELs). IELs are normally in a decrescendo pattern of decreasing concentration from crypt (more there) to tip (less there)...hence the development of the villus tip score (VTS), below. Since cell-mediated type of sensitivity manifests as increased IELs (associated with other than just gluten sensitivity), maybe we should speak in terms of IEL evidence of cell-mediated sensitivity enteropathy (a term more all-inclusive than protein sensitive enteropathy (PSE). Amplification Note: In order to enhance the recognition factor of IELs, we began using IHC CD3 (or LCA) signal amplification...CD3-amplified VTS. Count CD3-tagged IELs per 20 villous-surface epithelial enterocytes in at least 5 random villous tips (do 10 tips if possible) and calculate an IELs per 20 tip epithelials average (and Id offer that IHC ...
Identical twins reveal mechanisms behind ageing - Healthcanal.com : Healthcanal.comIdentical twins reveal mechanisms behind ageing - Healthcanal.com : Healthcanal.com
The results may in part explain why the immune system is impaired with age. During a persons life, continuous alterations in the cells DNA occur. The alterations can be changes to the individual building blocks of the DNA but more common are rearrangements where large DNA segments change place or direction, or are duplicated or completely lost. In the present study the scientists examined normal blood cells from identical (monozygotic) twins in different age groups and looked for large or smaller DNA rearrangements. The results showed that large rearrangements were only present in the group older than 60 years. The most common rearrangement was that a DNA region, for instance a part of a chromosome, had been lost in some of the blood cells. Certain, almost identical, rearrangements were found in several individuals and some of these could be correlated with a known blood disease in which the bone marrows capacity to produce new blood cells is disturbed. Rearrangements were also found in the ...
Armani Arrives in Style Among the Top Five LPI Ayrshire Sires CowsmoArmani Arrives in Style Among the Top Five LPI Ayrshire Sires Cowsmo
Armani Arrives in Style Among the Top Five LPI Ayrshire Sires, tied at #5 LPI, and also captures #3 Milk, tied #8 Fat, #6 Protein with +7 Conformation.
Pulmonary alveolar proteinosis | definition of pulmonary alveolar proteinosis by Medical dictionaryPulmonary alveolar proteinosis | definition of pulmonary alveolar proteinosis by Medical dictionary
Looking for online definition of pulmonary alveolar proteinosis in the Medical Dictionary? pulmonary alveolar proteinosis explanation free. What is pulmonary alveolar proteinosis? Meaning of pulmonary alveolar proteinosis medical term. What does pulmonary alveolar proteinosis mean?
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From the mid-1990s onward, screening of the BRCA1 and BRCA2 genes has been routinely done in genetic diagnostic laboratories to identify mutations predisposing to breast and ovarian cancer. All laboratories analyze the coding sequence and intron-exon junctions by direct sequencing or prescreening methods followed by sequencing. Most of them, at least in Europe, also search for large rearrangements using semiquantitative PCR-based methods such as MLPA (12) or QMPSF (11). In some laboratories, mRNA analyses are conducted for high-risk families as a second step when no mutation is identified on genomic DNA. Indeed, mRNA analysis represents an effective tool for the identification of yet undiscovered molecular defects of the BRCA1/2 genes such as gene inversion, or splicing alterations. With regard to the detection of this latter class of mutations, much progress has been accomplished in the recent years because of the development of in silico tools that can more or less efficiently predict the ...
Sodium- and chloride-dependent creatine transporter elisa and antibodySodium- and chloride-dependent creatine transporter elisa and antibody
Shop Sodium- and chloride-dependent creatine transporter ELISA Kit, Recombinant Protein and Sodium- and chloride-dependent creatine transporter Antibody at MyBioSource. Custom ELISA Kit, Recombinant Protein and Antibody are available.
PULMONARY ALVEOLAR PROTEINOSIS* | Annals of Internal Medicine | American College of PhysiciansPULMONARY ALVEOLAR PROTEINOSIS* | Annals of Internal Medicine | American College of Physicians
CASE REPORT. A 53 year old Negro man was admitted to the Orange Memorial Hospital on January 13, 1958. For the preceding six months he had noted mild exertional dyspnea, and a cough productive of moderate amounts of white sputum. He attributed these symptoms to the fracture of a left rib in July, 1957. In November, 1957, he developed symptoms and signs of a ...
MedicoNotebook: Neonatal Pulmonary Alveolar ProteinosisMedicoNotebook: Neonatal Pulmonary Alveolar Proteinosis
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ICD-9-CM Diagnosis Code 516.0 : Pulmonary alveolar proteinosisICD-9-CM Diagnosis Code 516.0 : Pulmonary alveolar proteinosis
Free, official info about 2015 ICD-9-CM diagnosis code 516.0. Includes coding notes, detailed descriptions, index cross-references and ICD-10-CM conversion info.
BMJ Group blogs: ADC PrecisBMJ Group blogs: ADC Precis
In a series of children with severe food intolerance causing enterocolitis these authors have determined that a food challenge is helpful at 6 to 8 months in children with soy intolerance, and over 12 months in cows milk protein intolerance. Here.. more…. ...
List of MeSH codes (C18)List of MeSH codes (C18)
List of MeSH codes (C16)List of MeSH codes (C16)
Inborn errors of renal tubular transportInborn errors of renal tubular transport
AminoaciduriaAminoaciduria
Electron-transferring-flavoprotein dehydrogenaseElectron-transferring-flavoprotein dehydrogenase
Sodium phenylbutyrateSodium phenylbutyrate
Methylmalonyl-CoA mutaseMethylmalonyl-CoA mutase
IminoglycinuriaIminoglycinuria
List of ICD-9 codes 240-279: endocrine, nutritional and metabolic diseases, and immunity disordersList of ICD-9 codes 240-279: endocrine, nutritional and metabolic diseases, and immunity disorders
Fanconi syndromeFanconi syndrome
MTRR (gene)MTRR (gene)
PhenylketonuriaPhenylketonuria
Joseph D. SchulmanJoseph D. Schulman
HemeHeme
Systemic primary carnitine deficiencySystemic primary carnitine deficiency
Biotin deficiencyBiotin deficiency
CarnitineCarnitine
Methylmalonic acidemiaMethylmalonic acidemia
B vitaminsB vitamins
Aldolase BAldolase B
Succinic semialdehyde dehydrogenase deficiencySuccinic semialdehyde dehydrogenase deficiency
Smith-Lemli-Opitz syndromeSmith-Lemli-Opitz syndrome
Sodium nitroprussideSodium nitroprusside
MetabolismMetabolism
Fatty acid metabolismFatty acid metabolism
Thiamine deficiencyThiamine deficiency
Vitamin B12Vitamin B12
SucroseSucrose
Infant formulaInfant formula
Succinic semialdehyde dehydrogenase deficiencySuccinic semialdehyde dehydrogenase deficiency
Factor XFactor X
ಟೆಂಪ್ಲೇಟು:Central nervous system navs - ವಿಕಿಪೀಡಿಯಟೆಂಪ್ಲೇಟು:Central nervous system navs - ವಿಕಿಪೀಡಿಯ
Tyrosinemia type IITyrosinemia type II
HemeHeme
உயிர்ச்சத்து சி - தமிழ் விக்கிப்பீடியாஉயிர்ச்சத்து சி - தமிழ் விக்கிப்பீடியா
Kidney stone diseaseKidney stone disease
HistidinemiaHistidinemia
Ocular albinismOcular albinism
Nucleic acid metabolismNucleic acid metabolism
GlycoproteinGlycoprotein
Thiamine deficiencyThiamine deficiency
3-Methylcrotonyl-CoA carboxylase deficiency3-Methylcrotonyl-CoA carboxylase deficiency
Newborn screeningNewborn screening
DiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsAnthropology, Education, Sociology and Social PhenomenaTechnology, Industry, AgricultureInformation ScienceHealth CarePublication CharacteristicsGeographicals
Amino Acid Transport Disorders, InbornAmino Acid Transport SystemsAmino AcidsAminoisobutyric AcidsAmino Acid Transport Systems, BasicBiological TransportAmino Acid Transport System ABiological Transport, ActiveAmino Acid Transport System LOculocerebrorenal SyndromeRenal Tubular Transport, Inborn ErrorsGTPase-Activating ProteinsMuscle HypotoniaPhosphoric Monoester HydrolasesDent DiseaseLEOPARD SyndromeSyndromeStevens-Johnson SyndromeDictionaries, MedicalDictionaries as TopicDictionaries, ChemicalTerminology as TopicPhoneticsDictionaryLanguageEncyclopedias as TopicMetabolism, Inborn ErrorsAmino Acid Metabolism, Inborn ErrorsEncyclopediasLipid Metabolism, Inborn ErrorsGlossitisBlindness, CorticalAnemia, MegaloblasticAnemia, HemolyticHemolytic-Uremic SyndromePurpura, Thrombotic ThrombocytopenicThrombotic MicroangiopathiesNeonatal ScreeningPurine-Pyrimidine Metabolism, Inborn ErrorsSteroid Metabolism, Inborn ErrorsCarbohydrate Metabolism, Inborn ErrorsFructose IntoleranceAlkaptonuriaGlycogen Storage Disease Type IHomocystinuriaFructose-Bisphosphate AldolaseGlycogen Storage DiseaseCurriculumIndiaHealth Knowledge, Attitudes, PracticeTeachingQuestionnairesBiotechnologyComputers
Inborn Amino Acid Transport Disorders Summary Report | CureHunterInborn Amino Acid Transport Disorders Summary Report | CureHunter
Amino Acid Transport Disorders, Inborn | Colorado PROFILESAmino Acid Transport Disorders, Inborn | Colorado PROFILES
Study of the Pathophysiological Mechanisms Involved in Bleeding Events - Full Text View - ClinicalTrials.govStudy of the Pathophysiological Mechanisms Involved in Bleeding Events - Full Text View - ClinicalTrials.gov
Genetic Analysis of Oculocerebrorenal Syndrome of Lowe - Full Text View - ClinicalTrials.govGenetic Analysis of Oculocerebrorenal Syndrome of Lowe - Full Text View - ClinicalTrials.gov
Cysteine CalculiCysteine Calculi
Thermal Transport in Supported Graphene Nanomesh.Thermal Transport in Supported Graphene Nanomesh.
Combining electrokinetic transport and bioremediation for enhanced removal of crude oil from contaminated marine sediments:...Combining electrokinetic transport and bioremediation for enhanced removal of crude oil from contaminated marine sediments:...
Lethargy - RightDiagnosis.comLethargy - RightDiagnosis.com
Learning disability - RightDiagnosis.comLearning disability - RightDiagnosis.com
Internet Scientific PublicationsInternet Scientific Publications
Disease - 5 | Britannica.comDisease - 5 | Britannica.com
Inborn errors of metabolism facts, information, pictures | Encyclopedia.com articles about Inborn errors of metabolismInborn errors of metabolism facts, information, pictures | Encyclopedia.com articles about Inborn errors of metabolism
Metabolic error - definition of metabolic error by The Free DictionaryMetabolic error - definition of metabolic error by The Free Dictionary
List of MeSH codes (C18) - WikipediaList of MeSH codes (C18) - Wikipedia
List of MeSH codes (C16) - WikipediaList of MeSH codes (C16) - Wikipedia
Initial presentation of a urea cycle disorder in adulthood: an under-recognised cause of severe neurological dysfunction | The...Initial presentation of a urea cycle disorder in adulthood: an under-recognised cause of severe neurological dysfunction | The...
Frontiers | Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency | Molecular BiosciencesFrontiers | Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency | Molecular Biosciences
2020 ICD-10-CM Diagnosis Code E72.09: Other disorders of amino-acid transport2020 ICD-10-CM Diagnosis Code E72.09: Other disorders of amino-acid transport
Inborn Genetic Errors of Metabolism < Inborn Genetic Diseases << Congenital, Hereditary, & Neonatal Issues <<< Diseases @...Inborn Genetic Errors of Metabolism < Inborn Genetic Diseases << Congenital, Hereditary, & Neonatal Issues <<< Diseases @...
Pathology of amino acid metabolismPathology of amino acid metabolism
Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria | SpringerLinkCarbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria | SpringerLink
Inborn error of metabolism (Concept Id: C0025521) - MedGen - NCBIInborn error of metabolism (Concept Id: C0025521) - MedGen - NCBI
Hartnup Disease: Practice Essentials, Background, PathophysiologyHartnup Disease: Practice Essentials, Background, Pathophysiology
Hartnup disease | Britannica.comHartnup disease | Britannica.com
Averys Diseases of the NewbornAvery's Diseases of the Newborn
Inborn error of metabolism | definition of inborn error of metabolism by Medical dictionaryInborn error of metabolism | definition of inborn error of metabolism by Medical dictionary
Amino Acid Disorders Screening | definition of Amino Acid Disorders Screening by Medical dictionaryAmino Acid Disorders Screening | definition of Amino Acid Disorders Screening by Medical dictionary
About | Annals of Clinical Endocrinology and Metabolism | HSPCAbout | Annals of Clinical Endocrinology and Metabolism | HSPC
Congenital Anomalies: Neurologic Emergencies | 2015-02-23 | AHC Media: Continuing Medical Education PublishingCongenital Anomalies: Neurologic Emergencies | 2015-02-23 | AHC Media: Continuing Medical Education Publishing
Inborn Errors of Amino Acid Metabolism Assignment Help & Homework HelpInborn Errors of Amino Acid Metabolism Assignment Help & Homework Help
DiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsAnthropology, Education, Sociology and Social PhenomenaTechnology, Industry, AgricultureInformation ScienceHealth CarePublication CharacteristicsGeographicals
Amino Acid Transport Disorders, InbornAmino Acid Transport SystemsAmino AcidsAminoisobutyric AcidsAmino Acid Transport Systems, BasicBiological TransportAmino Acid Transport System ABiological Transport, ActiveAmino Acid Transport System LOculocerebrorenal SyndromeRenal Tubular Transport, Inborn ErrorsGTPase-Activating ProteinsMuscle HypotoniaPhosphoric Monoester HydrolasesDent DiseaseLEOPARD SyndromeSyndromeStevens-Johnson SyndromeDictionaries, MedicalDictionaries as TopicDictionaries, ChemicalTerminology as TopicPhoneticsDictionaryLanguageEncyclopedias as TopicMetabolism, Inborn ErrorsAmino Acid Metabolism, Inborn ErrorsEncyclopediasLipid Metabolism, Inborn ErrorsGlossitisBlindness, CorticalAnemia, MegaloblasticAnemia, HemolyticHemolytic-Uremic SyndromePurpura, Thrombotic ThrombocytopenicThrombotic MicroangiopathiesNeonatal ScreeningPurine-Pyrimidine Metabolism, Inborn ErrorsSteroid Metabolism, Inborn ErrorsCarbohydrate Metabolism, Inborn ErrorsFructose IntoleranceAlkaptonuriaGlycogen Storage Disease Type IHomocystinuriaFructose-Bisphosphate AldolaseGlycogen Storage DiseaseCurriculumIndiaHealth Knowledge, Attitudes, PracticeTeachingQuestionnairesBiotechnologyComputers
MetabolismDeficiencyProteinPhenylketonuriaCystineORNITHINEProteinsCongenitalDibasic aminoAmmoniaPhenylalanineAutosomal recessive disorderGlycineMetabolic DiseasesARGININEDefectiveClinicalDefectEnzymeCystinuriaSynthesisDefectsOrganicOxidationDiseasesTandem mass spectroMitochondrialUrineMetabolitesMutationsGlucoseLeucineSmall intestineErrorEssential aminoAminoaciduriaKidneysNucleicTransporterUrea cycle disAccumulationDiseaseEnzymesEpithelialDietaryNutritional
Metabolism101
Deficiency23
Protein27
Phenylketonuria5
Cystine10
ORNITHINE2
Proteins13
Congenital9
Dibasic amino1
Ammonia7
Phenylalanine4
Autosomal recessive disorder9
Glycine2
  • The three amino acids comprising glutathione are glutamate, cysteine, and glycine. (asnjournals.org)
  • Guanidinoacetic acid (GAA, also known as glycocyamine or betacyamine) is a naturally-occurring derivative of glycine and a direct metabolic precursor of creatine, a key player in high-phosphate cellular bioenergetics. (medsci.org)
Metabolic Diseases1
ARGININE1
  • Besides serving as a direct precursor of creatine, GAA appears to have no other major physiological roles [ 8 ], although exogenous GAA may stimulate hormonal release and neuromodulation, alter metabolic utilization of amino acids ( e.g. , arginine, creatine), and act as an oxidant-antioxidant tuner [ 9 ]. (medsci.org)
Defective5
Clinical18
  • In our body, Progeroid Syndromes (Progeria) , aka Premature Aging Syndromes, are rare group of accelerated aging dis-orders , with possibly genetic inborn metabolic errors , characterized by clinical features mimicking physiological aging at an early age, and may cause real premature aging with shorten life expectancies. (wellnessadvocate.com)
  • A novel mutation, c.850G→A, in exon 6 of the SLC6A19 gene was described in a Chinese family with typical clinical characteristics of Hartnup disorder. (medscape.com)
  • An alternative strategy to detect amino acid deficiencies is the indicator amino acid oxidation method [ 8 ], but this method should be used for research purposes rather than for clinical practice. (biomedcentral.com)
  • A number of clinical syndromes have been described that have as their basic foundation a defect in some transport function of the renal tubule (Table 1), and several of them are inherited. (springer.com)
  • Dr. Hahn developed and validated clinical genetic test on mitochondrial disorders by high-throughput next generation sequencing technology. (seattlechildrens.org)
  • The clinical presentation is dependent upon the specific amino acid disorder. (testcatalog.org)
  • Amino acid disorders are presented with variable and often nonspecific clinical symptoms. (intechopen.com)
  • This clinical report will not address the importance of developmental screening in the medical home, nor will it address the diagnostic evaluation of the child with an autism spectrum disorder who happens to have ID as a co-occurring disability. (aappublications.org)
  • It also lowers glutamic acid in the brain, and preliminary clinical trials suggest taurine may be useful in some forms of epilepsy. (selfdecode.com)
  • Epileptic encephalopathy can be induced by inborn metabolic defects that may be rare individually but in aggregate represent a substantial clinical portion of child neurology. (hindawi.com)
  • This paper provides an overview of inborn metabolic errors associated with persistent brain disturbances due to highly active clinical or electrographic ictal activity. (hindawi.com)
  • Details including key clinical features, salient electrophysiological and neuroradiological findings, biochemical findings, and treatment options are summarized for prominent disorders in each category. (hindawi.com)
  • Inherited metabolic epilepsies are disorders that, while individually rare, are in aggregate a substantial clinical portion of child neurology, as well as a complex field of knowledge for physicians, investigators, and students to tackle. (hindawi.com)
  • A subset of these disorders can lead to the development of epileptic encephalopathy, that is, a brain disturbance due to highly active clinical or electrographic ictal activity. (hindawi.com)
  • This paper provides an overview of inborn metabolic errors associated with epileptic encephalopathy, summarizing key clinical features and underlying biochemistry, salient electrophysiological and neuroradiological findings, and primary treatment options where appropriate. (hindawi.com)
  • Clinical manifestations and growth of patients with urea cycle disorders in Japan. (thefreedictionary.com)
  • Message: EE is clinically-recognizable disorder with typical clinical features. (bvsalud.org)
  • Affected children who are detected at birth and treated are much less likely to develop neurological problems or have seizures and intellectual disability (though such clinical disorders are still possible. (wikipedia.org)
Defect8
Enzyme7
  • The phenylpyruvic acid has also been shown to inhibit the enzyme pyruvate decarboxylase in brain. (allbest.ru)
  • Adrenoleukodystrophy (ALD) - This is a rare but fatal genetic disorder in which patients accumulate high levels of saturated, very-long-chain fatty acids in the brain and adrenal cortex, which develop because they cannot produce an enzyme that breaks down fatty acids. (coem.com)
  • The diagnosis is based on plasmatic and urinary amino and organic acid determinations as well as on the measurement of enzyme activity in fibroblastic cultures (2) . (ajnr.org)
  • The disorder has been attributed to glutathione depletion and activation of a key enzyme in the γ -glutamyl cycle. (asnjournals.org)
  • Children with mild or moderate urea cycle enzyme deficiencies may not show symptoms until early childhood, or may be diagnosed subsequent to identification of the disorder in a more severely affected relative or through newborn screening. (bionity.com)
  • Which enzyme is responsible for the conversion of HGA to Maleylacetoacetic Acid? (studystack.com)
  • Examples of specific disorders are discussed, with full listings of the multiple enzyme defects and diseases in particular categories presented in tables. (hindawi.com)
Cystinuria1
Synthesis1
Defects7
Organic4
Oxidation4
Diseases2
  • Diseases of the Nervous System in Childhood provides up-to-date information on the full range of these neurological disorders, from fetal and neonatal neurology to adolescence. (b-ok.org)
  • Last week, the Global Genes Project , leading patient advocacy organizations representing the rare disease community, issued the RARE List™ , a stunning 65 page alphabetical listing of roughly 7,000 known rare diseases and disorders. (addiandcassi.com)
Tandem mass spectro2
  • Other current projects in his lab focus on developing peptide finger printing analysis by tandem mass spectrometry for various metabolic and genetic disorders including cystinosis and primary immunodeficiencies. (seattlechildrens.org)
  • The introduction of tandem mass spectrometry (MS/MS) in the 1990s by Millington and coworkers for population-based newborn screening has helped healthcare providers detect an increased number of metabolic disorders. (loveysmarket.com)
Mitochondrial5
Urine9
Metabolites1
Mutations10
Glucose1
Leucine1
Small intestine2
Error2
Essential amino1
  • In United States, the disease usually does not manifest because the diet is rich in essential amino acids. (ispub.com)
Aminoaciduria2
Kidneys4
Nucleic2
  • Nitrogen bases are of two types: purines, such as adenine (A) and guanine (G), and pyrimidines, such as cytosine (C) and thymine (T). Long strands of nucleotides form nucleic acids. (loveysmarket.com)
  • Nucleic acids : Nucleotides - DNA & RNA Structure, Nucleic acid analogues of medical importance. (edu.in)
Transporter2
Urea cycle dis3
Accumulation1
Disease5
Enzymes1
Epithelial1
  • The sugars will be transported by the cytoskeleton through the epithelial cells and released in the connective matrix of the lamina basalis, as the concentrations will rapidly increase, diffusion towards the capillaries follows automatically. (fichier-pdf.fr)
Dietary2
Nutritional1
  • Nutritional requirements - RDA, SDA, Balanced diet and limiting amino acid. (edu.in)
Thermal Transport in Supported Graphene Nanomesh.
Thermal Transport in Supported Graphene Nanomesh. (bioportfolio.com)
Internet Scientific Publications
Internet Scientific Publications (ispub.com)
Initial presentation of a urea cycle disorder in adulthood: an under-recognised cause of severe neurological dysfunction | The...
Initial presentation of a urea cycle disorder in adulthood: an under-recognised cause of severe neurological dysfunction | The... (mja.com.au)
Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria - Full Text View -...
Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria - Full Text View -... (clinicaltrials.gov)
Pathology of amino acid metabolism
Pathology of amino acid metabolism (revolution.allbest.ru)
Hartnup disease | Britannica.com
Hartnup disease | Britannica.com (britannica.com)
Avery's Diseases of the Newborn
Avery's Diseases of the Newborn (geneeskundeboek.nl)
About | Annals of Clinical Endocrinology and Metabolism | HSPC
About | Annals of Clinical Endocrinology and Metabolism | HSPC (heighpubs.org)
Congenital Anomalies: Neurologic Emergencies | 2015-02-23 | AHC Media: Continuing Medical Education Publishing
Congenital Anomalies: Neurologic Emergencies | 2015-02-23 | AHC Media: Continuing Medical Education Publishing (reliasmedia.com)
Inborn Errors of Amino Acid Metabolism Assignment Help & Homework Help
Inborn Errors of Amino Acid Metabolism Assignment Help & Homework Help (medassignments.com)
Disorders of Carbohydrate Metabolism and Amino Acid Metabolism
Disorders of Carbohydrate Metabolism and Amino Acid Metabolism (lecturio.com)
Inherited Renal Tubular Disorders | SpringerLink
Inherited Renal Tubular Disorders | SpringerLink (link.springer.com)
Acetaminophen Toxicity and 5-Oxoproline (Pyroglutamic Acid): A Tale of Two Cycles, One an ATP-Depleting Futile Cycle and the...
Acetaminophen Toxicity and 5-Oxoproline (Pyroglutamic Acid): A Tale of Two Cycles, One an ATP-Depleting Futile Cycle and the... (cjasn.asnjournals.org)
Metabolic Disorders: Part I - Annalies Corse Lecturer
Metabolic Disorders: Part I - Annalies Corse Lecturer (annaliescorse.com)
Guanidinoacetic acid deficiency: a new entity in clinical medicine?
Guanidinoacetic acid deficiency: a new entity in clinical medicine? (medsci.org)
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