32 results about "Phenylketonurias" patented technology

The present invention features pharmaceutical compositions including sepiapterin, or a pharmaceutically acceptable salt and/or co-crystal thereof, and methods for the treatment of tetrahydrobiopterin-related disorders (e.g., tetrahydrobiopterin deficiency or phenylketonuria) with such compositions.

The invention discloses a phenylketonuria PAH gene detection kit, and relates to the technical field of gene detection. The kit includes a reagent for detecting polymorphic sites; and the polymorphicsites at least include one of c.611A>G, c.728G>A, c.1068C>A, c.1238G>C, c.442-1G>A, c.1197A>T, c.721C>T and c.331C>T. The PAH gene detection kit provides the allele-specific scorpion primers and shared primers thereof of eight common mutation sites for detecting PAH genes, so that a joint detection platform can be constructed, synchronous joint detection can be realized, detection specificity canbe enhanced, costs can be reduced, and detection time can be shortened; and the kit has important significance on carrying out the screening, genetic counseling and prenatal diagnosis of people with phenylketonuria.

The invention discloses a preparation method of low-phenylalanine egg white protein peptide, and belongs to the field of foods. The method comprises the following steps that after egg white protein powder is subjected to dissolving, heat treatment and shearing treatment, trypsin is combined with flavourzyme to carry out two-step protease enzymolysis on the egg white protein powder, an obtained enzymatic hydrolysate is centrifuged to remove insoluble substances, a collected supernatant is subjected to static adsorption by activated carbon to remove phenylalanine so as to obtain a low-phenylalanine egg white protein peptide mixed solution, and reverse osmosis concentration and drying are carried out so as to obtain low-phenylalanine egg white protein peptide powder. According to the invention, egg white protein is deeply hydrolyzed through a two-step enzyme method, and the hydrolysis degree reaches 50% or above; and the method provided by the invention can remove 98% or above of the phenylalanine in the egg white protein, the content of obtained polypeptide phenylalanine accounts for 0.11-0.19% of the equivalent weight of the protein, and the method has the potential of being used for preparing formula foods or health care products for special medical purposes of patients with phenylketonuria and the like.

The invention discloses primers for detecting hotspot mutation of a phenylketonuria related gene PAH gene. The primers comprise primers for amplifying the sixth exon and the seventh exon of the PAH gene; by adopting a Sanger sequencing technology, the primers can be used for rapidly detecting mutation of the sixth exon and the seventh exon of the PAH gene in the body of a patient with phenylketonuria. The detection result completed by the kit is accurate, and the kit has important reference significance for rapid diagnosis of phenylketonuria patients.

The invention aims to disclose a formula powder used for a phenylketonuria patient, and a preparation method for the formula powder. The formula powder is prepared from the following ingredients in parts by weight: 60-90% of plant oil fatty powder, 8-20% of compound amino acid, 0-6.45% of Fos (Fructo oligosaccharide), 0-6.45% of Gos (galacto-oligosaccharide), 0.012-0.058% of nucleotide, 0.044-0.13% of vitamin complex and 1.195-4.717% of complex mineral substance, and does not contain phenylalanine. Compared with the prior art, fat, carbohydrates, amino acids, vitamins, mineral substances and the like are taken as a basic composition, a proportion is scientific, and the growth and development requirements of infants can be met. The plant oil fatty powder contains the fat and the carbohydrates, energy is provided for organisms, the compound amino acid supplements the growth and development requirements of a human body with necessary amino acids, in addition, phenylalanine is not added, the accumulation of alanine and a ketonic acid thereof is not generated, the intake of the amino acids of a patient is guaranteed, the normal metabolism of the amino acid of the organisms is maintained, and the purposes of the formula powder disclosed by the invention is realized.

Nutritional formulation suitable to manage the diet for phenylketonuria, which comprises glycomacropeptide (GMP) as the primary source of proteins and additional complementary essential amino acids, to complete the required protein profile, supplied in a mixture comprising arginine, cystine, histidine, tryptophan, tyrosine and leucine.

The invention relates to the technical field of medicines, and provides application of a composition of enterococcus and berberine or berberine salt in preparation of medicines for preventing and/or treating phenylketonuria. Specifically, the enterococcus can obviously metabolize phenylalanine in an in-vitro culture medium system; the enterococcus belongs to the phylum of Thyrium, Bacillus, Lactobacillus and Enterococcus family. Meanwhile, the combination of the enterococcus and the berberine can significantly treat the phenylketonuria, and the plasma phenylalanine of a suckling mouse with the phenylketonuria can be reduced by 34.2% after 4 weeks of treatment. Therefore, the combination of the enterococcus and the berberine has an outstanding treatment effect in preventing and/or treating the phenylketonuria.

The invention provides a recombinant expression vector, the recombinant expression vector can be expressed in lactobacillus reuteri to generate phenylalanine deaminase, and the phenylalanine deaminase can decompose phenylalanine and metabolites thereof, which are ingested in the stomach and intestine, so that the phenylalanine and the metabolites thereof are prevented from being accumulated in a body, and the purpose of treating the phenylketonuria is achieved.

The invention discloses a method for reducing the content of phenylalanine in a product, and belongs to the field of food processing. Protein-containing products are used as raw materials, hydrolysate obtained through enzymolysis is adsorbed through macroporous resin, and the removal rate of phenylalanine in the protein hydrolysate after adsorption through macroporous non-polar adsorption resin can reach 15%-90% by adjusting the adsorption temperature, the pH value of adsorption liquid and the adsorption time. The resin adsorption specificity is high, the removal rate of phenylalanine in the obtained product is high, the defects that the adsorption range of traditional activated carbon is wide, nutrient substances are lost and the like are overcome through resin adsorption, the operation process is simple and convenient, and the method is suitable for industrial production; and the method has the potential of being used for preparing special medical purpose formula food or health care products for patients suffering from phenylketonuria and the like.

The invention discloses a low-phenylalanine vegetable protein peptide and a preparation method thereof, and belongs to the field of food. The content of phenylalanine in the low-phenylalanine plant protein peptide accounts for 0.13-0.19% of the protein equivalent, and the low-phenylalanine plant protein peptide has the potential of being used for preparing formula food or health care products with special medical purposes for patients suffering from phenylketonuria and the like. The method comprises the following steps: dissolving plant protein powder, carrying out two-step protease enzymolysis on the plant protein powder by using alkaline protease and flavourzyme, and centrifuging the obtained zymolyte to remove insoluble substances; enabling the collected supernate to be subjected to static adsorption by activated carbon to remove phenylalanine, and obtaining a low-phenylalanine vegetable protein peptide mixed solution; carrying out vacuum filtration to remove the activated carbon, and performing freeze-drying to obtain the low-phenylalanine vegetable protein peptide powder. The vegetable protein is hydrolyzed through a compound enzyme method, more than 96% of phenylalanine in the vegetable protein can be removed, and the preparation method of the low-phenylalanine protein peptide is effective.

The invention belongs to the technical field of biology, and provides an application of engineering enterococcus faecalis capable of expressing human phenylalanine hydroxylase in drugs for treating phenylketonuria, and plasmids containing the human-derived phenylalanine hydroxylase gene optimized according to enterococcus faecalis codons are introduced into enterococcus faecalis, so that the human phenylalanine hydroxylase is expressed in the intestinal tract. Experimental results show that: the human phenylalanine hydroxylase is successfully expressed in the enterococcus faecalis through a gene engineering technology; the engineering enterococcus faecalis can obviously metabolize phenylalanine in an in-vitro culture medium system; meanwhile, the phenylketonuria can be remarkably treated by orally taking the engineering enterococcus faecalis, and the phenylalanine in the plasma of a suckling mouse with phenylketonuria can be reduced by 46.8% after the engineering enterococcus faecalis is used for treatment for 4 weeks. It is shown that the engineering enterococcus faecalis has an outstanding treatment effect in prevention and/or treatment of phenylketonuria.

The present invention relates to a compound selected from the group consisting of nolatrexed, triamterene, sultopride and hydrastinine or a pharmaceutically acceptable salt thereof, preferably triamterene, nolatrexed or a pharmaceutically acceptable salt thereof, and to combination of said compounds with other active ingredients, for use in the treatment and/or prevention of phenylketonuria, to the use of said compound or its combinations in the manufacture of a medicament for the treatment or prevention of said diseases and to a method of treating and/or preventing by administration of said compound or its combinations.

The invention relates to the fields of medicine and biotechnology, in particular to engineering probiotics for treating phenylketonuria as well as a construction method and application thereof. The recombinant expression vector comprises a recombinant expression vector I and a recombinant expression vector II; the recombinant expression vector I is an expression vector containing a phenylalanine ammonia lyase gene PAL nucleotide sequence, a protein secretion processing domain coding gene prtP nucleotide sequence and a lactobacillus acidophilus constitutive promoter SL; the recombinant expression vector II is an expression vector containing a phenylalanine ammonia lyase gene PAL nucleotide sequence, a phenylalanine transfer pump gene pheP and a lactobacillus acidophilus constitutive promoter SL; the engineering probiotics capable of secreting phenylalanine ammonia lyase to the outside of the bacteria in gastrointestinal tracts are constructed for the first time, phenylalanine in digested food in the gastrointestinal tracts is effectively degraded, the phenylalanine intake of patients is reduced, and the engineering probiotics are used for treating PKU.

A composition for preventing or treating a metabolic disease, in particular phenylketonuria, comprising sulfur amino acids and minerals is provided, wherein said sulfur amino acids comprise a combination of methionine and cysteine in a methionine/cysteine ratio of 2.2-2.7:1 and said minerals comprise sodium, potassium, magnesium, calcium, chlorine, phosphorus. The composition of the invention is formulated to provide a negative PRAL value, preferably with −35<PRAL<−20 values mEq/day on 100 g of equivalent proteins.