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Updated: Apr 19, 2026

Semi-Targeted Ultra-High-Performance Chromatography Coupled to Mass Spectrometry Analysis of Phenolic Metabolites in Plasma of Elderly Adults
Published on: April 22, 2022
Plasma cholesterol in adults with phenylketonuria
Robin A Williams1, Amanda J Hooper, Damon A Bell
11Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Perth 2School of Medicine and Pharmacology, University of Western Australia, Perth 3School of Pathology and Laboratory Medicine, University of Western Australia, Perth 4Department of Internal Medicine, Royal Perth Hospital, Perth 5School of Biomedical Science and CHIRI Biosciences Research Precinct, Curtin University, Bentley, WA, Australia.
Phenylketonuria (PKU) is linked to lower cholesterol levels in adults. This study suggests high phenylalanine levels, not diet, cause hypocholesterolemia in PKU patients, potentially offering cardioprotection.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Phenylketonuria (PKU) is an inherited metabolic disorder affecting phenylalanine breakdown.
- Previous studies suggested a link between hyperphenylalaninemia (HPA) in PKU and low cholesterol, but the cause (diet vs. inherent metabolic disruption) was debated.
Purpose of the Study:
- To investigate the relationship between blood phenylalanine levels and plasma cholesterol in adults with PKU.
- To determine if HPA or dietary restrictions are responsible for hypocholesterolemia in PKU.
Main Methods:
- Studied 41 healthy adults with PKU (compliant and non-compliant with diet).
- Measured blood phenylalanine and plasma lipid profiles (total cholesterol, triglycerides, HDL, LDL, apoB).
- Compared LDL-cholesterol levels in PKU adults to age-matched community populations.
Main Results:
- Adults with PKU exhibited low-normal cholesterol concentrations.
- No significant correlation was found between phenylalanine levels and cholesterol or apoB.
- PKU males and females showed significantly lower LDL-cholesterol compared to controls.
Conclusions:
- Hyperphenylalaninemia in PKU, rather than dietary protein restriction, appears to be the primary driver of hypocholesterolemia.
- Further research is needed to ascertain if this cholesterol-lowering effect in PKU confers cardiovascular protection.
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