Madelena Michele Martin, M.D.
Professor, Department of Pediatrics
To see if Madelena Michele Martin is accepting new patients, or for assistance finding a UC Davis doctor, please call 800-2-UCDAVIS (800-282-3284).
Locations and Contact
Additional Numbers
Clinic Phone
Clinic Fax
Department Referral Phone
Physician Referrals
Philosophy of Care
My team and I understand that inborn errors of metabolism affect every aspect of a patient and their family’s life. For newly diagnosed patients, our philosophy is “start as you mean to go” encouraging patients and families to make the recommended treatment part of the daily routine. For our younger patients, we implement transition of care for so that as adults they are able to successfully manage their care.
Clinical Interests
Dr. Martin is a clinical geneticist who specializes in caring for children and adults with inborn errors off metabolism. She is the director of the Lysosomal Storage Disease clinic, the Metabolic Clinic and the UC Davis Metabolic Newborn Screening Program. In addition, she serves as the Geneticist for the UC Davis Cleft panel.
Research/Academic Interests
Dr. Martin’s research is focused on adding to the understanding of rare diseases and trialing therpies to treat inborn erros of metabolism.
Division
Genomic Medicine
Center/Program Affiliation
Undergraduate School
B.A, Biology, California State University - Fresno, Fresno CA 1995
Medical School
M.D., University of North Carolina at Chapel Hill School of Medicine, Chapel Hill NC 2000
Internship
Pediatrics, Loma Linda University, Loma Linda CA 2000-2001
Residency
Pediatrics, Loma Linda University, Loma Linda CA 2002-2003
Residency
Clinical Genetics, UC San Francisco, San Francisco CA 2004-2006
Fellowship
Biochemical Genetics, UC San Francisco, San Francisco CA 2006-2007
Champions of Excellence, Pediatric Craniofacial Clinic Team, UMass Memorial, 2011
GlaxoSmithKline Endocrinology Scholar Award, Western Society of Pediatric Research, 2005
Second Year Resident of the Year, Pediatrics, Loma Linda University Medical Center, 2002
Intern of the Year, Pediatrics, Loma Linda University Medical Center, 2001
Godfrey ND, Dowlatshahi S, Martin MM, Rothkopf DM. Wieacker-Wolff syndrome with associated cleft palate in a female case. Am J Med Genet A. 2018 Jan;176(1):167-170. doi:10.1002/ajmg.a.38527. Epub 2017 Nov 17. PMID:29150902.
Kane J, Berrebi K, McLean R, Petkiewicz S, Hay B, Martin M, Wiss K. Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis. Clin Case Rep. 2017 Jun 1;5(7):1152-1154. doi:10.1002/ccr3.1011. PMID:28680615.
Droms RJ, Rork JF, McLean R, Martin M, Belazarian L, Wiss K. Menkes Disease Mimicking Child Abuse. Pediatr Dermatol. 2017 May;34(3):e132-e134. doi:10.1111/pde.13106. Epub 2017 Mar 20. PMID:28318055.
Sahai I, Garganta CL, Bailey J, James P, Levy HL, Martin M, Neilan E, Phornphutkul C, Sweetser DA, Zytkovicz TH, Eaton RB. Newborn Screening for Glutaric Aciduria-II: The New England Experience. JIMD Rep. 2014;13:1-14. doi:10.1007/8904_2013_262. Epub 2013 Nov 5. PMID:24190796.
Mahadeo KM, Diop-Bove N, Ramirez SI, Cadilla CL, Rivera E, Martin M, Lerner NB, DiAntonio L, Duva S, Santiago-Borrero PJ, Goldman ID. Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico. J Pediatr. 2011 Oct;159(4):623-7.e1. doi:10.1016/j.jpeds.2011.03.005. Epub 2011 Apr 13. PMID:21489556.
Borzutzky A, Crompton B, Bergmann AK, Giliani S, Baxi S, Martin M, Neufeld EJ, Notarangelo LD. Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter. Clin Immunol. 2009 Dec;133(3):287-94. doi:10.1016/j.clim.2009.08.006. Epub 2009 Sep 9. PMID:19740703.
Skjei KL, Martin MM, Slavotinek AM. KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. Am J Med Genet A. 2007 Feb 1;143A(3):292-300. doi:10.1002/ajmg.a.31597. PMID:17230487.
Martin MM, Lockspieler T, Slavotinek AM. Oculo-ectodermal syndrome: is arachnoid cyst a common finding? Clin Dysmorphol. 2007 Jan;16(1):35-38. doi: 10.1097/MCD.0b013e328010b7f9. PMID: 17159512.
Thomas AC, Cullup T, Norgett EE, Hill T, Barton S, Dale BA, Sprecher E, Sheridan E, Taylor AE, Wilroy RS, DeLozier C, Burrows N, Goodyear H, Fleckman P, Stephens KG, Mehta L, Watson RM, Graham R, Wolf R, Slavotinek A, Martin M, Bourn D, Mein CA, O'Toole EA, Kelsell DP. ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol. 2006 Nov;126(11):2408-13. doi:10.1038/sj.jid.5700455. Epub 2006 Aug 10. PMID:16902423.