Nishitha Pillai, MBBS, FACMG

Assistant Professor, Department of Pediatrics

Nishitha Pillai

Contact Info

Administrative Assistant Name
Denise Fogel

Administrative Phone

Administrative Email

Administrative Fax Number

Residency in Medical Genetics, Baylor College of Medicine, Huston, TX

Residency in Pediatrics, Inova Fairfax Hospital for Children, Fairfax, VA

Fellowship in Medical Biochemical Genetics, Baylor College of Medicine, Huston, TX

MBBS, Government Medical College, Calicut, India


Dr. Nishitha Pillai is an Assistant Professor in the Division of Genetics & Metabolism at The University of Minnesota. She received her medical degree from the Government Medical College Kozhikode in India and completed her Pediatric Residency at Inova Children’s Hospital in Farifax, Virginia. Subsequently, she completed her Medical Genetics Residency as well as clinical fellowship in Medical Biochemical Genetics at Baylor College of Medicine - Texas Children’s Hospital in Houston.

Dr. Pillai specializes in medical genetics and inborn errors of metabolism for patients of all ages. Dr. Pillai's career goal is to treat patients with metabolic disorders and conduct translational research investigating new therapies for inborn errors of metabolism. She is particularly interested in lysosomal storage diseases and overgrowth syndromes.

Awards & Recognition

  • Sanofi Genzyme/American College of Medical Genetics Foundation Next Generation Fellowship Award (2018)


Research Summary/Interests

Lysosomal storage diseases & somatic and vascular overgrowth syndromes


  • Pillai NR, Stroup BM, Poliner A, Rossetti L, Rawls B, Shayota BJ, Soler-Alfonso C, Tunuguntala HP, Goss J, Craigen W, Scaglia F, Sutton VR, Himes RW, Burrage LC: Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review: Mol Genet Metab. 2019 Dec. PMID: 31757659
  • Pillai NR, Yubero D, Shayota BJ, Oyarzábal A, Ghosh R, Sun Q, Azamian MS, Arjona C, Brandi N, Palau F, Lalani SR, Artuch R, García-Cazorla A, Scott DA: Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease: Am J Med
    Genet A. 2019 Sep 13. PMID: 31520464
  • Pillai NR, AlDhaheri NS, Ghosh R, Lim J, Streff H, Nayak A, Graham BH, Hanchard NA, Elsea SH, Scaglia F: Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures: Am J Med Genet A. 2019 Jul 10. PMID: 31290619
  • Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA: Review of the phenotypic spectrum associated with haploinsufficiency of MYRF: Am J Med Genet A, 2019 May 8. PMID: 31069960
  • Soler-Alfonoso C, Pillai N, Cooney E, Mysore KR, Boyer S, Scaglia F: L Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency: Mol Genet Metabl. 2019 Jan 25. PMID: 30740308
  • Pillai NR , Marafi D, Monteiro SA, Parnes M, Chandy BM , Patel A , Bacino CA, Breman AM, Burrage LC: Novel Deletion of 6p21.31p21.1 Associated with Laryngeal Cleft, Developmental Delay, Dysmorphic Features and Vascular Anomaly: Eur J Med Genet. 2018 Aug 21. PMID:30142436
  • Pillai NR, Mullikin D ,Sanchez R, Almannai M, O’Donnell-Luriae AH, Kritzere A, Tal L, Berry G, Gambellod MJ, Li H, Graham B, Srivathsa L, Grimes A, Sutton VR: Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism-Case
    Reports and Literature Review: J Pediatr. 2018 Jul 26. PMID:30142436


Board Certifications

  • American Board of Pediatrics
  • American Board of Medical Genetics and Genomics- Medical Biochemical Genetics
  • American Board of Medical Genetics and Genomics- Clinical Genetics and Genomics