Authors
Peter J. Leahy, MD
Department of Pediatric Genetics
Heather M. Stieglitz, PhD
Department of Pathology and Laboratory Medicine
Ellen Maher, MD
Department of Pediatrics
Laurie Smith, PhD, MD
Associate Professor, Pediatrics Department of Pediatric Genetics
Nichole Korpi-Steiner, PhD
Assistant Professor, Pathology and Laboratory Medicine
Director, Special Chemistry Laboratory
Department of Pathology and Laboratory Medicine
University of North Carolina Chapel Hill, North Carolina
Intended Audience: Pathologists, Residents, Clinical Scientists, Laboratory Technologist/Scientist (Includes all sub-specialty areas), Students, Pathologist Assistants, Laboratory Directors and Educators
Upon completion of this activity, you will be able to:
- describe blood gas and electrolyte test methodologies, analytic considerations, and their clinical utility in the assessment of acid-base disorders;
- calculate the anion gap and describe the differential diagnosis of a high anion gap metabolic acidosis;
- explain urine organic acid analysis test methodology, analytic considerations, and clinical utility in the assessment of inborn errors of metabolism; and
- depict the ?-glutamyl cycle and discuss the pathophysiology of glutathione synthetase deficiency.