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78 results about "Classic phenylketonuria" patented technology
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Tyrosine is necessary for the production of neurotransmitters like epinephrine, norepinephrine, and dopamine. PAH deficiency causes a spectrum of disorders, including classic phenylketonuria (PKU) and mild hyperphenylalaninemia (also known as "hyperphe" or "mild HPA"), a less severe accumulation of phenylalanine.
Nutritional formula for phenylketonuria patients
A nutritional formula for PKU patients. The nutritional formula has, as a protein source, a mixture of caseino-glyco-macropeptide and complementary essential amino acids other than Phe to provide a balanced amino acid profile. Vitamins and minerals sufficient to meet daily requirements are also included. When used as a complete diet, the nutritional formula includes a carbohydrate source and a fat source. However the nutrutional formula may also be used as a protein supplement in which case the carbohydrate source and the fat source may be omitted. The nutritional formula has a pleasant taste.
Owner:NESTEC SA
Compositions of prokaryotic phenylalanine ammonia-lyase variants and methods of using compositions thereof
InactiveUS20130039898A1Effective treatmentImprove propertiesCarbon-nitrogen lyasesPeptide/protein ingredientsWild typeImmunogenicity
Provided herein are phenylalanine ammonia-lyase (PAL) variants produced by prokaryotes, wherein such prokaryotic PAL variant has a greater phenylalanine-converting activity and / or a reduced immunogenicity as compared to a wild-type PAL. Further provided are compositions of prokaryotic PAL and biologically active fragments, mutants, variants or analogs thereof, as well as methods for the production, purification, formulation, and use of such compositions for industrial and therapeutic purposes, e.g., treating hyperphenylalaninemia, including phenylketonuria, and other disorders, including cancer.
Owner:BIOMARIN PHARMA INC
mRNA therapy for phenylketonuria
ActiveUS20150110858A1Effective treatmentEfficient protein productionNervous disorderPeptide/protein ingredientsLipid formationCholesterol
The present invention provides, among other things, methods of treating phenylketonuria (PKU), including administering to a subject in need of treatment a composition comprising an mRNA encoding phenylalanine hydroxylase (PAH) at an effective dose and an administration interval such that at least one symptom or feature of PKU is reduced in intensity, severity, or frequency or has delayed in onset. In some embodiments, the mRNA is encapsulated in a liposome comprising one or more cationic lipids, one or more non-cationic lipids, one or more cholesterol-based lipids and one or more PEG-modified lipids
Owner:TRANSLATE BIO INC
Methods and compositions for the treatment of metabolic disorders
ActiveUS20060040946A1Low phenylalanine concentrationAvoid high concentrationsBiocideMetabolism disorderClassic phenylketonuriaMetabolic disorder
The present invention is directed to a novel methods and compositions for the therapeutic intervention in hyperphenylalaninemia. More specifically, the specification describes methods and compositions for treating various types of phenylketonurias using compositions comprising BH4. Combination therapies of BH4 and other therapeutic regimens are contemplated.
Owner:BIOMARIN PHARMA INC
Formula powder for phenylketonuria children and preparation method thereof
ActiveCN104012659AAdequate nutrient absorptionEnsure physiological needsMilk preparationNucleotideHypersensitive response
The invention provides formula powder for phenylketonuria children and a preparation method thereof. The formula powder comprises solid glucose syrup, amino acid, fatty acid, nucleotide, fish oil, dietary fiber, composite vitamins, composite mineral substances and an emulsifier, and is prepared by using a wet-method preparation process of materials. According to the formula powder, special free amino acid is adopted, a proper amount of free L-tyrosine is screened and optimized, and phenylalanine is removed, so that the physiological needs of sick children are met, and at the same time hypersensitivity of phenylketonuria infants is effectively prevented; in the formula, the components have the mutual synergistic effect, the powder is approximate to breast milk in absorption, taste and the like, children can absorb sufficient nutrition after taking the powder, and meanwhile anaphylaxis such as diarrhea can be effectively reduced; and the formula powder is simple in preparation method and applicable to requirements of large-scale industrial production.
Owner:中恩(天津)医药科技有限公司
Methods and Compositions for the Treatment of Attention Deficit Hyperactivity Disorder and Hyperphenylalanemia
Disclosed is a composition that includes a tetrahydrobiopterin in a controlled-release pharmaceutical preparation. Also disclosed is a method of treating a patient with phenylketonuria that includes administering, to the patient, a composition that contains tetrahydrobiopterin in a controlled-release pharmaceutical preparation. Also disclosed is a method of treating a patient with ADHD that includes administering a tetrahydropterin to the patient. Compositions for the treatment of ADHD are also described.
Owner:BOARD OF RGT THE UNIV OF TEXAS SYST
Glycomacropeptide medical foods for nutritional management of phenylketonuria and other metabolic disorders
ActiveUS20100317597A1Increase dietary complianceIncrease dietary compliance and quality of lifeUrea derivatives preparationNervous disorderComplete proteinArginine
Medical foods containing glycomacroprotein and additional supplemented amounts of arginine, leucine, and optionally other amino acids, such as tyrosine, are disclosed. The medical foods can be used to provide the complete protein requirements for patients having metabolic disorders such as phenylketonuria.
Owner:WISCONSIN ALUMNI RES FOUND
New system and kit for screening and diagnosing phenylketonuria
ActiveCN105755109ALow costImprove throughputMicrobiological testing/measurementGenes mutationImage resolution
The invention discloses a new system for screening and diagnosing phenylketonuria.41 common phenylalanine hydroxylase gene mutation sites and 4 most common 6-pyruvoyl tetrahydrobiopterin synthetase (PTPS) gene (PTS) mutation sites are screened to form the gene mutation detection system of phenylketonuria.The system is low in cost and high in throughput.Compared with the prior art, the system has the advantages that most mutation sites can be detected in one system, and 45 mutation sites can be detected; the comprehensive cost is the lowest, and the total cost of the system is lower than built methods using the DNA chip technology, the 'molecular switch' technology, the high-resolution melting curve method and the SNaPShot technology to detect PAH gene mutation; most mutation sites can be detected, the number of the detected mutation sites is twice as the number of the detected PAH gene mutation sites of the high-resolution melting curve method built by Xiamen University, the number of the detected mutation sites is 4 times as the number of the detected mutation sites of the DNA chip technology and the SNaPShot technology, and the number of the detected mutation sites is 6 times as the number of the detected mutation sites of the 'molecular switch' technology.
Owner:SUZHOU MUNICIPAL HOSPITAL +1
Kit for detecting 7 hot mutant sites of phenylketonuria PAH gene and PCR amplification method thereof
ActiveCN101899518AStrong specificityEasy to operateMicrobiological testing/measurementAgricultural scienceFluorescence
The invention relates to a kit for detecting 7 hot mutant sites of a phenylketonuria PAH gene and a PCR amplification method thereof. The invention is characterized in that in the PCR reaction in which high-fidelity DNA polymerase participates, the product of a mutation detection primer which is modified in a 3'-5' exonuclease digestion resistance way, has very high specificity, and people can directly observe the existence of the strips obtained by gel electrophoresis to judge the genotype of the corresponding mutant sites of the PAH gene. The invention has the advantages of simple operation and economical performance, does not need sequencing, and can be operated in a common molecular biology laboratory. The method of the invention is combined with the fluorescence quantitative PCR technology, and can realize automation and high flux of clinic detection of the biological sample, thereby greatly enhancing the detection accuracy and efficiency.
Owner:SUZHOU KUANGYUAN MOLECULAR BIOTECH
Methods and compositions for the treatment of attention deficit hyperactivity disorder and hyperphenylalanemia
Owner:BOARD OF RGT THE UNIV OF TEXAS SYST
PKU (Phenylketnuria) gene detection kit
ActiveCN104232770AAccurate detectionAccurate judgmentMicrobiological testing/measurementCapillary electrophoresisGenotype
The invention discloses a PKU (Phenylketnuria) gene detection kit. According to the kit, a multiple ligase detection reaction (MLDR) technology is adopted, specific probes and label probes on seven polymorphic sites on PKU determining genes (PAH) are adopted, the genotypes of seven common polymorphic sites on the PAH genes in Chinese population are detected, the genotypes of four or five detected samples can be simultaneously and accurately judged by utilizing a multiple fluorescent capillary electrophoresis detection technology, and the phenylketonuria can be diagnosed and screened. The kit disclosed by the invention can be used for rapidly and efficiently detecting the genotypes of seven polymorphic sites on the PAH genes and is a rapid, simple, convenient, economical and high-efficiency PKU gene screening and diagnosing kit.
Owner:GUANGDONG HUAMEI ZHONGYUAN BIOLOGICAL SCI & TECH +1
Chinese population phenylketonuria PAH (phenylalanine hydroxylase) gene screening kit
InactiveCN103436616AFacilitate judgment and identificationLow costMicrobiological testing/measurementCapillary electrophoresisElectrophoresis
The invention discloses a kit for synchronously detecting 12 mutation hotspots of the Chinese population phenylketonuria PAH (phenylalanine hydroxylase) gene. In the kit, 12 loca on the Chinese population PAH gene are used as detection objects; an amplification primer and an extension primer are respectively designed for the mutation type of each locus; each destination section is subjected to PCR amplification and mark extension at the same time; and the gene types of the 12 mutation hotspots are obtained at the same time through capillary electrophoresis analysis. The invention provides a phenylketonuria PAH gene mutation screening kit which is simple, has the advantages of high flux, high performance, low cost and high detection accuracy, is suitable for the Chinese people and suitable for the group screening of the Chinese population phenylketonuria.
Owner:SUZHOU MUNICIPAL HOSPITAL
PKU (Phenylketonuria) pathogenic gene mutation detection method and device based on semiconductor sequencing
ActiveCN107974490ASolve the problem of detecting large background noiseEffectively distinguish between true and false positivesBioreactor/fermenter combinationsBiological substance pretreatmentsMutation detectionProton
The invention discloses a PKU (Phenylketonuria) pathogenic gene mutation detection method and device based on semiconductor sequencing. A local mutation database is constructed to comprehensively reflect background noise which possibly exists in a detection range and true and false positive results of mutation can be effectively distinguished; the problem that the background noises of PKU detection are great, caused by inherent homopolymerize basic group sequencing errors of a semiconductor sequencing platform, is solved; influences of different batches sequencing quality can be controlled relatively well and the accuracy and stability of detection are improved; the PKU pathogenic gene mutation detection method and device are especially suitable for a Proton platform.
Owner:CAPITALBIO GENOMICS
Microencapsulated saccharomyces and its application
InactiveCN1589776ANo toxicological issuesGood adhesion to the small intestineFungiNervous disorderYeastSmall intestine
Owner:DALIAN INST OF CHEM PHYSICS CHINESE ACAD OF SCI
Set of primer group and method capable of simultaneously detecting mediterranean anemia, epicophosis, phenylketonuria and hepatolenticular degeneration
ActiveCN107955832AEfficient methodFast wayMicrobiological testing/measurementDNA/RNA fragmentationDiseaseAgricultural science
The invention discloses a set of primer group and a detection method capable of simultaneously detecting relevant gene mutation of mediterranean anemia, epicophosis, phenylketonuria and hepatolenticular degeneration. The primer group is composed of a primer pool 1 comprising 9 pairs of primers, a primer pool 2 comprising 10 pairs of primers, and a primer pool 3 comprising 8 pairs of primers, wherein upstream and downstream primer sequences are sequentially shown as SEQ ID NO.1-54. The three primer pools of the primer group can carry out multiplex PCR amplification simultaneously, in combination with a high-throughput sequencing technology, common pathopoiesis mutation sites capable of simultaneously detecting the four genetic diseases including mediterranean anemia, epicophosis, phenylketonuria and hepatolenticular degeneration are established, and in addition, the method is efficient, rapid and accurate, is good in repeatability, and has a very good application prospect.
Owner:GUANGZHOU DARUI BIOTECH
Recombinant phe-free proteins for use in the treatment of phenylketonuria
ActiveUS20180016613A1Low costNot easy to producePeptide/protein ingredientsAlbumin peptidesFree proteinNucleotide
The present invention relates to a method for preparing a recombinant Phe-free or Phe-low protein, the method comprising using B. subtilis or B. licheniformis as an expression system and / or a recombinant host cell into which a nucleotide encoding a recombinant Phe-free or Phe-low protein has been inserted into the genome.
Owner:NEXTTOBE
Kit for detecting PAH (phenylalanine hydroxylase) gene of phenylketonuria
ActiveCN104031990AHigh detection specificityLow costMicrobiological testing/measurementPrenatal diagnosisNucleotide
The invention discloses a kit for detecting a PAH (phenylalanine hydroxylase) gene of phenylketonuria. The kit comprises (1) a gene chip with 13 mutation sites of the PAH gene and a normal control complementary nucleotide sequence probe thereof and (2) various primers for amplifying DNA sequences in clinical samples, wherein the probe is SEQ ID Nos: 1-26 or the sequence complementary to SEQ ID Nos: 1-26; the DNA sequences of the primers are SEQ ID Nos: 27-40. By virtue of the kit for detecting the PAH gene, which is disclosed by the invention, a joint detection platform for detecting 13 common mutation sites of the PAH gene is provided, a synchronous joint detection is achieved, the specificity of the detection is improved, the cost is reduced and the detection time is shortened; the kit is of great significance for screening phenylketonuria-infected patients and carrying out genetic counseling and prenatal diagnosis.
Owner:潮州凯普生物化学有限公司 +1
Detection kit of gene mutations associated with phenylketonuria
InactiveCN106498059AWide detection rangeImprove throughputMicrobiological testing/measurementGene defectMutation detection
The invention discloses a detection kit of gene mutations associated with phenylketonuria. The detection kit comprises ddH2O, 10*buffer (Takara), 2*GC buffer I, dNTP, MgCl2, HSTaq, a multiple PCR mixed primer liquid and an Illumina I5 / I7 primer. The detection kit has a wide detection range, comprehensively detects phenylketonuria caused by five gene defects, sequencing detection is conducted on the upstream 500bp of a genetic transcription start site, 5'UTR, a coding region, 8pp intron sequences of a splice site and transcription terminators, it is predicted that the mutation detection rate can reach 95% or above, and the detection kit can be better applied to clinical practice.
Owner:中国人民解放军新疆军区总医院 +1
Method and apparatus for examining diseases with inborn errors of metabolism
InactiveCN1461347AEasy to operateAvoid the need to prepare reagentsMicrobiological testing/measurementBiological testingTert-leucinePhenylalanine
A method of conveniently and quickly quantitating subject substances which comprises using as reaction reagents at least dehydrogenases specific respectively to branched amino acids containing D-galactose and L-leucine and phenylalanine, which are the substances contained in biological samples to be assayed, coenzymes, an electron mediator and a tetrazolium salt and detecting formazan, which has been finally formed depending on the concentrations of the subject substances by the enzymatic reactions and oxidation reactions of the biological samples with the reaction reagents, by using both or one of an optical detection procedure and an electrochemical detection procedure, thereby embodying a convenient and quick examination of three diseases with inborn errors of metabolism, i.e., galactosemia, maple syrup urine disease and phenylketonuria.
Owner:SAPPORO IMMUNO DIAGNOSTIC LAB
Probe for detecting common genetic diseases, gene chip, preparation method and application
InactiveCN109055518AHigh detection throughputApplicable to large-scale population diagnosisMicrobiological testing/measurementDNA/RNA fragmentationEccentric hypertrophyGlobin genes
The invention discloses a probe for detecting common genetic diseases, a gene chip, a preparation method and application. The preparation method comprises the following steps of according to genes ofthalassemia, phenylketonuria, spinal muscular atrophy, hepatolenticular degeneration, pseudomuscular hypertrophy, glycogen storage disease Type II, methylmalonic academia, methylmalonic aciduria-accompanied type cysteine peptiduria Type cb1C, and oculocutaneous albinism Type 1, constructing a target capturing area, and designing a capturing probe, wherein the target capturing area comprises all globin genes, important regulating areas, deleted mutation breakpoints and SNP (single nucleotide polymorphism) sites of alpha and beta genes, and SMN1, PAH, ATP7B, DMD, GAA, MUT, MMACHC and TYR genes.The probe for the gene mutation of common genetic diseases can be designed according to the related genes of nine types of genetic diseases, and the prepared probe can be used for detecting the nine types of genetic diseases, and be suitable for large-scale population diagnosis and screening.
Owner:TIANJIN MEDICAL LAB BGI +2
Kit for detecting mutation of pathogenic genes of phenylketonuria
InactiveCN107523608AReduce morbidityQuick and easy detectionMicrobiological testing/measurementPolycyclic aromatic hydrocarbonPrenatal diagnosis
The invention belongs to the technical field of biology and particularly relates to a kit for detecting whether pathogenic genes of phenylketonuria are mutated. The kit contains the following main components: (1) 13 pairs of PCR (Polymerase Chain Reaction) amplification and sequencing primers of 1-13 exon areas of PAH (Polycyclic Aromatic Hydrocarbon) genes; (2) PCR amplification reagent; (3) PCR product purifying reagent; and (4) DNA sequencing reagent. The kit is used for detecting mutants of the PAH genes of the pathogenic genes of the phenylketonuria, and has the advantages that carriers and patients with the pathogenic genes can be rapidly and conveniently checked, the benefit for prenatal diagnosis and early stoppage of birthing of child patients is achieved, and the morbidity of the phenylketonuria is reduced.
Owner:中科基因生物科技(江苏)有限公司
Method of synthesizing compound containing difluoromethyl group
InactiveCN1923781AMild reaction conditionsNo pollution in the processOrganic halogenationKetoneOzone
The invention discloses a synthesizing method of methyl difluoride ether and amine, which is characterized by the following: neutralizing soluble organic solvent at 50-80 deg.c; reacting compound with monohydric hydrogen or nitrogen atom on the hydrogen and univalent metal hydroxide compound solution and difluo-monochloromethyl phenylketonuria or difluo-monochloromethyl phenylsulfone for 1-5h to produce the product with hydrogen replaced by fluorine methyl.
Owner:SHANGHAI INST OF ORGANIC CHEM CHINESE ACAD OF SCI
Mutant of phenylalanine deaminase with anabaena source
InactiveCN106497905ACope wellGood pH stabilityCarbon-nitrogen lyasesNervous disorderOral medicationProtein engineering
The invention discloses a mutant of phenylalanine deaminase with an anabaena source and belongs to protein engineering. The phenylalanine deaminase E75L obtained in the invention has trypsin degradation resistance and low pH resistance which are greatly improved compared with those of wild-type enzymes. The phenylalanine deaminase E75L provided by the invention achieves the effect of promoting application of the phenylalanine deaminase in oral medication of phenylketonuria (PKU) to a certain degree.
Owner:JIANGNAN UNIV
Methods and materials for treating conditions associated with metabolic disorders
Disclosed are methods for treating a subject suffering from phenylketonuria and / or phenylalanemia. The methods include, in part, enterally administering to the subject a LNAA supplement in which the weight ratio of Leu to Val is greater than 2:1; in which the weight ratio of Leu to iLeu is greater than 3:1; or which includes one or more LNAAs and which further includes Lys. LNAA supplements are also disclosed. Also disclosed are methods for treating a subject suffering from a condition involving a metabolic disorder involving the metabolism of a first amino acid X. The method includes enterally administering to the subject a composition which (i) is substantially free from the first amino acid X and (ii) which includes a second amino acid Y that competes with amino acid X at a gastrointestinal tract transporter.
Owner:PREKULAB LTD AF 8 MARTS 2004
Purification of multi-specific receptors
Owner:MIPSALUS APS
Phenylalanine hydroxylase fusion protein and methods for treating phenylketonuria
InactiveUS20100316623A1Extended half-lifeIncreased persistence in circulationSugar derivativesPeptide/protein ingredientsNucleotideHalf-life
The present invention provides Phenylalanine Hydroxylase (PAH) fusion proteins and pharmaceutical compositions comprising the same, as well as encoding polynucleotides and vectors, and methods for treating hyperphenylalaninemia, including PKU, by enzyme replacement therapy. The fusion proteins have phenylalanine hydroxylase activity when administered: and have an increased half-life or persistence in circulation, as compared to unfused counterparts. The PAH fusion proteins are suitable for enzyme replacement therapy in PKU patients by converting phenylalanine in the circulation to tyrosine, thereby controlling phenylalanine levels.
Owner:PHASEBIO PHARMA INC
Phenylketonuria detection primer group, kit and gene mutation detection method
ActiveCN107828883AStrong specificityReduce mutual interferenceMicrobiological testing/measurementDiseaseWhite blood cell
The invention discloses a phenylketonuria detection primer group, a kit and a gene mutation detection method. The primer group covering six phenylketonuria related genes PAH, PTS, GCH1, QDPR, PCBD1 and SPR and upstream and downstream 10bp splice sites thereof are provided for the first time. The primer group in a multiplex PCR (polymerase chain reaction) reaction system is high in specificity, lowin primer mutual interference, high in uniformity and high in amplicon expression depth. The phenylketonuria detection primer group, the kit and the gene mutation detection method have advantages ofquickness, comprehensiveness, accuracy and simplicity in operation and are applicable to detection of samples of blood, blood spots, leukocytes and the like. Compared with the prior art, the phenylketonuria detection primer group, the kit and the gene mutation detection method have advantages of wide coverage, more detection sites and high accuracy, can be applied to disease prevention in terms ofphenylketonuria gene mutation detection, carrier detection, genetic counseling and the like and can also be applied to disease treatment guidance.
Owner:CAPITALBIO GENOMICS +1
Method for analyzing and detecting L-phenylalanine based on liquid crystal sensor
InactiveCN109187542AShort processing timeLow detection limitMaterial analysis by optical meansPhosphatePhenylalanine
The invention relates to a method for analyzing and detecting L-phenylalanine based on a liquid crystal sensor. The method comprises the following steps: (1) diluting a sample to be tested in a TBS buffer solution to prepare a solution to be tested; (2) adding an alkaline phosphatase solution into the solution to be tested to prepare an enzyme reaction solution after a reaction; and (3) dripping the enzyme reaction solution onto the liquid crystal sensor modified by a sodium lauryl phosphate solution, and performing observation by using a polarizing microscope. The method for analyzing and detecting the L-phenylalanine in the urine of a patient with phenylketonuria based on the liquid crystal sensor provided by the invention has the advantages of low detection limit, easiness to obtain thedetection instrument, simple, rapid and sensitive detection method, less reagent consumption, short sample processing time and the like, the problems that the existing detection method is complicatedand high in cost are solved.
Owner:SHANDONG UNIV
Methods and Compositions for Treating Phenylketonuria
ActiveUS20170106054A1Reducing phenylalanine levelLower Level RequirementsOrganic active ingredientsCarbon-nitrogen lyasesIntestinal structurePhenylalanine dehydrogenase
The present invention provides compositions and methods of treating hyperphenylalaninemia (e.g., phenylketonuria) in a subject in need thereof comprising administering to the subject an effective amount of a phenylalanine dehydrogenase (PheDH) polypeptide. The present invention also provides pharmaceutical formulations comprising PheDH for lowering the phenylalanine concentration in the subject (e.g., in the intestines and / or blood).
Owner:CHILDRENS NAT MEDICAL CENT
DNA chip for diagnosing phenylketonuria
A DNA chip for diagnosing the phenylketonuria (PKU) features that an array of 6X4 DNA probes with 6-30 amino connecting arms of T base for detecting the gene mutation of phenylalamine hyroxylase is immobilized in a predefined area on the surface of glass, silicon chip, film, or high-molecular material, so the gene mutations at the sites R111X, Y204C, R243Q, W326X, Y356X and R419P can be simultaneously detected.
Owner:UNION STEMCELL & GENE ENG +1
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