Large neutral amino acids in the treatment of Phenylketonuria

​Evaluating the efficacy and safety of large neutral amino acids in the treatment of phenylketonuria.​​


A research project by Olivia Welle Fjellbirkeland

Phenylketonuria (PKU) can lead to severe intellectual disability and other neuropsychological symptoms. To prevent this, patients must follow a lifelong restrictive diet. Many patients struggle to adhere to the diet, some of which choose to discontinue it altogether. Large neutral amino acids (LNAA) have been applied in the treatment of PKU since 1985. There is evidence, that treatment with LNAA could allow for a less restrictive diet. Studies have shown that treatment with LNAA can lead to an increase of cerebral neurotransmitters, cerebral protein synthesis and improvement of neuropsychological performance. At present time, only few international PKU centers employ it as a means of treatment. This is most likely due to the limited available data regarding its short- and long-term efficacy.

The aim of this project is to evaluate the efficacy of LNAA in the treatment of PKU in comparison to the conservative treatment (dietary restriction). This will be achieved by employing functional imaging techniques and parallelly neuropsychological and functional assessments on both a short- and long-term basis.

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