Summary of Study ST001259

This data is available at the NIH Common Fund's National Metabolomics Data Repository (NMDR) website, the Metabolomics Workbench,, where it has been assigned Project ID PR000845. The data can be accessed directly via it's Project DOI: 10.21228/M8G10K This work is supported by NIH grant, U2C- DK119886.


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Study IDST001259
Study TitleTargeted Metabolomic Analysis in Patients with Wilson Disease Reveals Dysregulated Choline, Methionine and Aromatic Amino Acid Metabolism: Implications for Hepatic and Neurological Phenotypes
Study TypeCross-sectional
Study SummaryThis study is comparing the plasma metabolomics profile of patients with the genetic disorder, Wilson disease, compared to healthy subjects matched by age, sex, and BMI. Wilson disease (WD) is a genetic copper overload condition characterized by hepatic and neuropsychiatric symptoms with a pathogenesis not well-understood. Choline is essential for lipid metabolism and the methionine cycle; a dysregulated methionine cycle is reported in animal models of WD, though not verified in humans. Defects in neurotransmitters, acetylcholine, and biogenic amines are reported in WD patients with neurological presentations. Precursors of these neuromodulators include choline, phenylalanine, tyrosine, and histidine. Less is known about the circulating levels of these precursors in WD. We aimed to study choline, methionine, aromatic amino acids, and phospholipids in serum profiles of WD subjects compared to healthy subjects (HC).
University of California, Davis
Last NameMedici
First NameValentina
Address4150 V St, Sacramento CA 95817
Submit Date2019-10-01
Total Subjects76
Raw Data AvailableYes
Raw Data File Type(s)wiff
Analysis Type DetailLC-MS
Release Date2020-04-02
Release Version1
Valentina Medici Valentina Medici application/zip

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Subject ID:SU001327
Subject Type:Human
Subject Species:Homo sapiens
Taxonomy ID:9606
Gender:Male and female