The Metabolic Management Clinic is held one or two days weekly in the UIHC Pediatric Specialty Clinic. Six to 10 patients are seen weekly during these one-half day clinics.  Three clinics a month are devoted to the ongoing care and management of patients with PKU and galactosemia.  One clinic each month is designated a neurometabolic clinic and is held in conjunction with Pediatric Neurology.  Four clinics are mainly composed of new diagnoses, new evaluation for suspected inborn errors of metabolism, and follow-up visits for ongoing care.  The metabolic team manages a number of patients with various storage diseases, with many on enzyme replacement therapy and other therapeutic infusions, these patients are seen on a regular basis.  The range of patients seen is wide, from basic work-ups of developmental delay to follow-up and management of patients with rare metabolic disorders, including isovaleric acidemia, methylmalonic acidemia, urea cycle defects, lysosomal storage diseases, and mitochondrial disorders.  The residents are active doing initial and interval histories, physical examinations, and discussion of diagnostic testing, dietary therapy, treatment, and management.  The goal of this rotation is to provide the residents with a thorough understanding of the neonatal screening process for and diagnosis and treatment of relatively common inborn errors of metabolism, such as PKU, as well as providing a basis for the work-up of metabolic disorders and diagnostic interpretation of lab results in patients with an unknown metabolic disorder. 

Duration: Three 1-month rotations per year