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
Released Data Link
Team
Principal Investigator
Team Members