Of mice and men: Plasma phenylalanine reduction in PKU corrects neurotransmitter pathways in the brain.
Mol Genet Metab
; 128(4): 422-430, 2019 12.
Article
em En
| MEDLINE
| ID: mdl-31648944
ABSTRACT
In phenylketonuria (PKU), mutations of the phenylalanine hydroxylase (PAH) gene decrease the ability of PAH to convert phenylalanine (Phe) to tyrosine (Tyr), resulting in Phe accumulation in the blood and brain and disruption of neurotransmitter (NT) biosynthesis and metabolism. The following translational study explored the relationship between pegvaliase-mediated Phe correction in plasma and the NT biosynthesis and metabolism pathway in mice and humans with PKU. Lower plasma Phe levels were associated with normalization of the NT biosynthesis pathway which correlated with an improvement in inattention symptoms in subjects with PKU.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fenilalanina
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Fenilcetonúrias
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Encéfalo
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Neurotransmissores
Limite:
Animals
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Humans
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Male
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article