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Metabolomic and Lipidomic Analysis of Subjects with Galactosemia


EMSL Project ID
50654

Abstract

Galactosemia is a rare, genetic, metabolic disease affecting how the body processes galactose. Classical galactosemia, affecting 1 in 30,000 to 60,000 newborns, is a severe form of the disease leading to life threatening complications if not diagnosed and treated early in infants. Plasma and urine sample from 9 patients (2 collections per patient) with classical galactosemia will be analyzed using mass spectrometry. Lipids and metabolites will be extracted from the samples and analyzed to identify metabolic outliers of the disease by leveraging a control population of individuals with no known metabolic diseases, created under the Undiagnosed Diseases Network (UDN).

Project Details

Start Date
2019-01-11
End Date
2019-09-30
Status
Closed

Team

Principal Investigator

Jennifer Kyle
Institution
Pacific Northwest National Laboratory

Team Members

Kelly Stratton
Institution
Pacific Northwest National Laboratory

Young-Mo Kim
Institution
Pacific Northwest National Laboratory