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- Pku research paper in 2021
- Phenylketonuria genetic basis
- Phenylketonuria
- Types of pku
- Phenylketonuria pdf
- Pku research 2021
- Phenylketonuria disease
- Genetic testing for pku
Pku research paper in 2021
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Phenylketonuria
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Pku research 2021
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How is enzyme substitution therapy used to treat PKU?
Enzyme substitution therapy using PAL (E.C.4.3.1.5) has also been suggested as a possible therapeutic approach for PKU. PAL is an enzyme that catalyses the conversion of Phe to transcinnamic acid and insignificant amounts of ammonia (Figure 1).
What are mutations in the PAH gene that cause phenylketonuria?
Phenylketonuria (PKU; OMIM 261600) is an inborn error of metabolism caused predominantly by mutations in the phenylalanine hydroxylase (PAH) gene (1). Mutations in the PAHgene result in decreased catalytic activity affecting the catabolic pathway of phenylalanine (Phe) (Figure 1).
Are there any major issues with dietary therapy for PKU?
Although dietary treatment has been successful in preventing intellectual disability in early treated PKU patients, there are major issues with dietary compliance due to palatability of the diet. Other potential issues associated with dietary therapy include nutritional deficiencies especially vitamin D and B12.
What are the keywords for Phenylketonuria treatment?
Keywords: Phenylketonuria (PKU), phenylalanine hydroxylase (PAH), dietary therapy, tetrahydrobiopterin, large neutral amino acids (LNAA), glycomacropeptides (GMP), phenylalanine ammonia lyase, probiotic Introduction
Last Update: Oct 2021