The metabolic clinic is very closely associated with the newborn screening laboratory.  All screens that are abnormal for galactosemia, biotinidase and tandem mass disorders are reviewed and followed by the metabolic team.  The resident will be required to review all abnormal screens with the metabolic nurse and physician to develop a basic understanding of the underlying pathophysiology of metabolic disease and laboratory abnormalities that may indicate an inborn error of metabolism.  They will also be responsible for reviewing the confirmatory lab results in order to develop a firm background in metabolic diagnostic testing.

As a requirement the resident will spend 2 weeks in the Newborn Screening Laboratory in Ankeny, IA  (UHL Newsletter). There they will learn the process of newborn screening from the initial receipt of the bloodspot until the final report is printed.  They will participate in the preparation of the blood spots for testing and the interpretation of the results. They will also learn the basics of metabolic testing, including enzyme analysis and tandem mass spectrometry function and evaluation of lab results.

Duration: Three 1-month rotations per year