Claire K Turscak, MD, MS

Bio: Dr. Turscak is a pediatric resident at the University of Utah School of Medicine. She earned her MD and MS in Biomedical Sciences at Eastern Virginia Medical School in Norfolk, VA. Her interests include general pediatrics, primary care, rural and underserved medicine, and pediatric hospital medicine.

No conflicts of interest to report
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2M3HBA Deficiency: Primary Care Guide to a Positive Newborn Screen

Introduction: 2M3HBA deficiency is an X-linked disorder caused by pathogenic variants in the HSD17B10 gene (previously known as HADH2), which encodes the enzyme 17β-hydroxysteroid dehydrogenase type 10. This enzyme has a significant role in 2 major pathways: (1) the catabolism of the branched-chain amino acid isoleucine, resulting in elevated levels of acylcarnitine species when deficient, and (2) a …

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