Summary of Study ST001259
This data is available at the NIH Common Fund's National Metabolomics Data Repository (NMDR) website, the Metabolomics Workbench, https://www.metabolomicsworkbench.org, 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.
See: https://www.metabolomicsworkbench.org/about/howtocite.php
Study ID | ST001259 |
Study Title | Targeted Metabolomic Analysis in Patients with Wilson Disease Reveals Dysregulated Choline, Methionine and Aromatic Amino Acid Metabolism: Implications for Hepatic and Neurological Phenotypes |
Study Type | Cross-sectional |
Study Summary | This 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). |
Institute | University of California, Davis |
Last Name | Medici |
First Name | Valentina |
Address | 4150 V St, Sacramento CA 95817 |
vmedici@ucdavis.edu | |
Phone | 9167342011 |
Submit Date | 2019-10-01 |
Total Subjects | 76 |
Raw Data Available | Yes |
Raw Data File Type(s) | wiff |
Analysis Type Detail | LC-MS |
Release Date | 2020-04-02 |
Release Version | 1 |
Select appropriate tab below to view additional metadata details:
Factors:
Subject type: Human; Subject species: Homo sapiens (Factor headings shown in green)
mb_sample_id | local_sample_id | Treatment Group | Gender |
---|---|---|---|
SA091415 | Sample011 | Healthy | Female |
SA091416 | Sample010 | Healthy | Female |
SA091417 | Sample013 | Healthy | Female |
SA091418 | Sample014 | Healthy | Female |
SA091419 | Sample015 | Healthy | Female |
SA091420 | Sample009 | Healthy | Female |
SA091421 | Sample012 | Healthy | Female |
SA091422 | Sample008 | Healthy | Female |
SA091423 | Sample006 | Healthy | Female |
SA091424 | Sample007 | Healthy | Female |
SA091425 | Sample002 | Healthy | Male |
SA091426 | Sample001 | Healthy | Male |
SA091427 | Sample003 | Healthy | Male |
SA091428 | Sample004 | Healthy | Male |
SA091429 | Sample005 | Healthy | Male |
SA091430 | Sample064 | Wilson disease | Female |
SA091431 | Sample067 | Wilson disease | Female |
SA091432 | Sample041 | Wilson disease | Female |
SA091433 | Sample036 | Wilson disease | Female |
SA091434 | Sample047 | Wilson disease | Female |
SA091435 | Sample037 | Wilson disease | Female |
SA091436 | Sample040 | Wilson disease | Female |
SA091437 | Sample060 | Wilson disease | Female |
SA091438 | Sample054 | Wilson disease | Female |
SA091439 | Sample056 | Wilson disease | Female |
SA091440 | Sample035 | Wilson disease | Female |
SA091441 | Sample062 | Wilson disease | Female |
SA091442 | Sample052 | Wilson disease | Female |
SA091443 | Sample050 | Wilson disease | Female |
SA091444 | Sample051 | Wilson disease | Female |
SA091445 | Sample049 | Wilson disease | Female |
SA091446 | Sample029 | Wilson disease | Female |
SA091447 | Sample020 | Wilson disease | Female |
SA091448 | Sample019 | Wilson disease | Female |
SA091449 | Sample026 | Wilson disease | Female |
SA091450 | Sample072 | Wilson disease | Female |
SA091451 | Sample021 | Wilson disease | Female |
SA091452 | Sample027 | Wilson disease | Female |
SA091453 | Sample028 | Wilson disease | Female |
SA091454 | Sample032 | Wilson disease | Female |
SA091455 | Sample033 | Wilson disease | Female |
SA091456 | Sample017 | Wilson disease | Female |
SA091457 | Sample076 | Wilson disease | Female |
SA091458 | Sample030 | Wilson disease | Female |
SA091459 | Sample059 | Wilson disease | Female |
SA091460 | Sample075 | Wilson disease | Male |
SA091461 | Sample061 | Wilson disease | Male |
SA091462 | Sample074 | Wilson disease | Male |
SA091463 | Sample065 | Wilson disease | Male |
SA091464 | Sample069 | Wilson disease | Male |
SA091465 | Sample071 | Wilson disease | Male |
SA091466 | Sample068 | Wilson disease | Male |
SA091467 | Sample066 | Wilson disease | Male |
SA091468 | Sample063 | Wilson disease | Male |
SA091469 | Sample070 | Wilson disease | Male |
SA091470 | Sample073 | Wilson disease | Male |
SA091471 | Sample039 | Wilson disease | Male |
SA091472 | Sample025 | Wilson disease | Male |
SA091473 | Sample031 | Wilson disease | Male |
SA091474 | Sample034 | Wilson disease | Male |
SA091475 | Sample024 | Wilson disease | Male |
SA091476 | Sample023 | Wilson disease | Male |
SA091477 | Sample016 | Wilson disease | Male |
SA091478 | Sample018 | Wilson disease | Male |
SA091479 | Sample022 | Wilson disease | Male |
SA091480 | Sample038 | Wilson disease | Male |
SA091481 | Sample042 | Wilson disease | Male |
SA091482 | Sample053 | Wilson disease | Male |
SA091483 | Sample055 | Wilson disease | Male |
SA091484 | Sample057 | Wilson disease | Male |
SA091485 | Sample048 | Wilson disease | Male |
SA091486 | Sample046 | Wilson disease | Male |
SA091487 | Sample043 | Wilson disease | Male |
SA091488 | Sample044 | Wilson disease | Male |
SA091489 | Sample045 | Wilson disease | Male |
SA091490 | Sample058 | Wilson disease | Male |
Showing results 1 to 76 of 76 |