32 results about "Phenylketonurias" patented technology

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.

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.

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).

Disclosed are crystalline forms of sepiapterin free base selected from polymorphs A, B, C, D, E, F, and G, and combinations thereof, as well as crystalline polymorphs of salts of sepiapterin. Also disclosed are pharmaceutical compositions containing one or more such polymorphs and methods for preparing such polymorphs. Sepiapterin is useful in the treatment of a number diseases associated with low cellular levels of BH4, for example, phenylketonuria.

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.

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.

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).

The invention discloses a preparation method of low-phenylalanine egg white protein peptide, which belongs to the field of food. The method of the present invention comprises the following steps: after the egg white protein powder is dissolved, heat-treated and sheared, it is subjected to two-step proteolysis by using trypsin combined with flavor protease, and the obtained enzymolyzate is centrifuged to remove insoluble matter, The collected supernatant is statically adsorbed by activated carbon to remove phenylalanine to obtain a low-phenylalanine egg white protein peptide mixture, which is concentrated by reverse osmosis and dried to obtain a low-phenylalanine egg white protein peptide powder. The present invention deeply hydrolyzes egg white protein through a two-step enzymatic method, and the degree of hydrolysis reaches more than 50%; the method of the present invention can remove more than 98% of phenylalanine in egg white protein, and at the same time, the content of phenylalanine in the obtained polypeptide accounts for 50% of the protein equivalent. 0.11‑0.19%, which has the potential to be used to prepare special medical formula food or health products for patients with phenylketonuria.

The present invention provides a method for improving gene therapy efficiency by overexpressing adeno-associated virus receptors, specifically, the present invention provides an infection enhancing element, the element has the following structure: Z1-Z2-Z3-Z4(I ), wherein Z1 is an optional signal peptide element; Z2 is a PKD‑1 domain, a PKD‑2 domain, or a PKD‑1‑PKD‑2 domain; Z3 is none or a PKD‑3 domain; Z4 is Transmembrane element; "‑" indicates the peptide bond connecting the above elements; the additional condition is that when Z3 is a PKD‑3 element, Z4 is not a transmembrane element of AAVR. The infection enhancing element of the present invention can significantly improve the infection efficiency of the AAV virus vector system, and also improve the gene editing efficiency, and can significantly reduce the blood phenylalanine content of mice with phenylketonuria, thereby treating phenylketonuria .

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 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.

Provided herein are methods for treating a subject suffering from phenylketonuria by administering a phenylalanine hydroxylase (“PAH”) and / or a phenylalanine ammonia lyase (“PAL”) to the subject under conditions effective to deliver the phenylalanine 4-hydroxylase and / or PAL to the subject's small intestine. Also provided are methods for increasing the therapeutic activity of a phenylalanine 4-hydroxylase by thiolating the phenylalanine 4-hydroxylase. In addition, provided are oral dosage forms that include a phenylalanine 4-hydroxylase and / or a PAL and an enteric coating.

The invention pertains to the use of a composition in the manufacture of a product or method for therapeutically improving, promoting, restoring or maintaining recognition and / or working memory in a subject suffering from PKU and / or in a subject suffering from or at increased risk of impaired recognition and / or working memory associated with PKU, said composition comprising therapeutic amounts of: (i) at least one ω-3 polyunsaturated fatty acid (LCPUFA) selected from the group consisting of docosahexaenoic acid (DHA), eicosapentaenoic acid (EPA) and docosapentaenoic acid (DPA); (ii) choline, a choline salt and / or choline ester; and (iii) at least one B vitamin selected from the group consisting of vitamin B6, vitamin B12 and vitamin B9, including functional equivalents thereof, preferably vitamin B6 and / or vitamin B12, and functional equivalents thereof. The invention also pertains to a composition for use in such use or method.