Assistant Professor
Division of Medical Genetics

Department of Pediatrics
University of Utah School of Medicine
295 Chipeta Way
Salt Lake City, UT 84108
contact address


Brian J. Shayota, MD, MPH is an Assistant Professor of Pediatrics and Medical Genetics at the University of Utah. He received his undergraduate education at the University of California, San Diego and medical degree at St. George’s University School of Medicine. He then went on to complete residency in Pediatrics and Medical Genetics, followed by fellowship training in Medical Biochemical Genetics.

Dr. Shayota’s career has focused on diagnosing and treating rare inborn errors of metabolism and describing new/rare genetic disorders. His research has centered around expanding the phenotype of metabolic disorders with the use of metabolomic profiling and identifying new treatment strategies for rare disorders. Dr. Shayota has a keen interest in Public Health matters as well and works closely with the Utah state Newborn Screening program.

Dr. Shayota has served in various leadership positions for the American College of Medical Genetics (ACMG), Society for Inherited Metabolic Disorders (SIMD), and the Accreditation Council for Graduate Medical Education (ACGME) and regularly presents his research achievements at national meetings.

No conflicts of interest (5/15/2024)

Selected Bibliography:

Shayota BJ, Elsea SH.
Behavior and sleep disturbance in Smith-Magenis syndrome.
Curr Opin Psychiatry. 2019;32(2):73-78. PubMed abstract / Full Text

Shayota BJ, Le NT, Bekheirnia N, Rosenfeld JA, Goldstein AC, Moritz M, Bartholomew DW, Pastore MT, Xia F, Eng C, Yang Y, Lamb DJ, Scaglia F, Braun MC, Bekheirnia MR.
Characterization of the renal phenotype in RMND1-related mitochondrial disease.
Mol Genet Genomic Med. 2019;7(12):e973. PubMed abstract / Full Text

Shayota BJ, Zhang C, Shypailo RJ, Mazzeu JF, Carvalho CMB, Sutton VR.
Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form.
Am J Med Genet A. 2020;182(11):2632-2640. PubMed abstract

Shayota BJ, Donti TR, Xiao J, Gijavanekar C, Kennedy AD, Hubert L, Rodan L, Vanderpluym C, Nowak C, Bjornsson HT, Ganetzky R, Berry GT, Pappan KL, Sutton VR, Sun Q, Elsea SH.
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Mol Genet Metab. 2020;131(1-2):147-154. PubMed abstract

Shayota BJ, Soler-Alfonso C, Bekheirnia MR, Mizerik E, Boyer SW, Xiao R, Yang Y, Elsea SH, Scaglia F.
Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.
Am J Med Genet A. 2019;179(5):803-807. PubMed abstract