Of mice and men: Plasma phenylalanine reduction in PKU corrects neurotransmitter pathways in the brain

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 transl...

Full description

Saved in:
Bibliographic Details
Published inMolecular genetics and metabolism Vol. 128; no. 4; pp. 422 - 430
Main Authors Berguig, Geoffrey Y., Martin, Nathan T., Creer, Athena Y., Xie, Lin, Zhang, Lening, Murphy, Ryan, Pacheco, Glenn, Bullens, Sherry, Olbertz, Joy, Weng, Haoling H.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.12.2019
Subjects
Biomarkers
Neurotransmitters
Pegvaliase
Phenylketonuria
PKU
Biomarkers
Phenylketonuria
Neurotransmitters
PKU
Pegvaliase
Online AccessGet full text

Cover

More Information
Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2019.08.004