SynthesisMetabolomics : Official journal of the Metabolomic Society2026
Metabolomic profiling in phenylketonuria: a systematic review of human studies.
Synthesis in Metabolomics : Official journal of the Metabolomic Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Role of the Gut-Liver-Kidney Axis in Disease Manifestation and Biomarker Alterations.International journal of molecular sciences · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPhenylketonuria (PKU) is a rare metabolic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine (Phe). Raised Phe levels can result in neurocognitive deficits, intellectual disabilities, and behavioral or psychiatric disorders. AIM OF REVIEW: To conduct a systematic review of human studies on metabolites identified through metabolomics in individuals with PKU, compared to healthy controls, and to provide insights into their biological significance. KEY SCIENTIFIC CONCEPTS OF REVIEW: A total of 26 human studies analyzing metabolites in urine and blood met the inclusion criteria. In total, 544 metabolites that differed between patients with PKU and healthy controls were identified through different metabolomic techniques (LC-MS, GC-MS, NMR). Differences were primarily observed in blood samples, which accounted for 95% of the total metabolites, with only 5% detected in urine samples, reflecting the limited use of this body fluid in only five studies. We found 60% of blood metabolites upregulated in patients with PKU, including Phe, Phe-related metabolites, lipids, and other amino acids, while tryptophan and kynurenine, among others, were downregulated (40%). Additionally, 35 metabolites (6% of the total) exhibited inconsistent directions of change (both up- and downregulated), including amino acids, carnitine derivatives, and lipids. These findings may be attributed to clinical factors (dietary adherence, supplementation, and treatment) and methodological differences in blood-derived matrices. Consequently, the high heterogeneity across studies, biological matrices and analytical platforms represents limitations for establishing a unique metabolomic signature. Overall, these results emphasize the metabolic complexity of PKU and highlight the potential of metabolomics to advance disease monitoring and management.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.