Metabolic Consortium

Project Lead: Janet Thomas, MD

Project Summary

The MSGRC Metabolic Consortium (MC) is dedicated to improving the early identification and long term outcome of newborns with metabolic disorders by establishing a model system of cooperation and collaboration among regional health care and public health partners. The MC facilitates the continued integration of advancements in newborn screening, evidenced based medicine, genomic medicine, and informatics to enhance and improve the newborn screening process and patient care so that all children may attain their highest potential and optimal functioning.

Project Abstract (coming soon)

Disease-specific Care Plans and Shared Datasets & Parent Handouts

Galactosemia
Biotinidase
Amino Acidemias / Urea Cycle Disorders
Organic Acidemias
Fatty Acid Oxidation Disorders