Ontology highlight
ABSTRACT:
SUBMITTER: Belanger AM
PROVIDER: S-EPMC6124451 | biostudies-literature | 2018 Jul
REPOSITORIES: biostudies-literature
Belanger Adam M AM Przybylska Malgorzata M Gefteas Estelle E Furgerson Matthew M Geller Sarah S Kloss Alla A Cheng Seng H SH Zhu Yunxiang Y Yew Nelson S NS
JCI insight 20180726 14
The neuropathological effects of phenylketonuria (PKU) stem from the inability of the body to metabolize excess phenylalanine (Phe), resulting in accumulation of Phe in the blood and brain. Since the kidney normally reabsorbs circulating amino acids with high efficiency, we hypothesized that preventing the renal uptake of Phe might provide a disposal pathway that could lower systemic Phe levels. SLC6A19 is a neutral amino acid transporter responsible for absorption of the majority of free Phe in ...[more]