
Mary Erika Orteza
National Institute of Health, PhilippinesPresentation Title:
Galactosemia among positive-screened patients who underwent lactose challenge: A review of records of the newborn screening program
Abstract
Background: Newborns screened positive for Galactosemia through Expanded Newborn
Screening (ENBS) with borderline levels undergo lactose challenge that requires interruption
of breastfeeding temporarily then shifting to soy-based formula.
Objective: To determine the percentage of Classical Galactosemia (CGal), Non-classical
Galactosemia (NCGal), probable mild variant form, and negative Galactosemia among
newborns screened positive for Galactosemia who underwent lactose challenge.
Methods: This is a retrospective study. NBS records were reviewed, and data were collected
from January 2015 to December 2020.
Results: Out of the 117 newborns screened positive for Galactosemia, 58 underwent lactose
challenge. Majority were male, term with a birth weight of 2500-4000g and received a final
disposition in 4-6 months. Fifteen patients underwent 1-week lactose challenge wherein six
reached a resolution on first challenge. Majority, 35 (60.3%) were negative for Galactosemia,
six (10.3%) probable mild variant Galactosemia, three (5.2%) NCGal, and no CGal were
observed. Fourteen suspected cases (24.1%) are pending final disposition.
Conclusion: This study describes the demographics of newborns flagged for Galactosemia
who underwent lactose challenge. A 1-week lactose challenge may be recommended to further
detect patients who are negative for Galactosemia.
Biography
Dr. Mary Erika V. Orteza had her Doctor of Medicine at Saint Louis University, Baguio City
Philippines (2008 - 2012) and passed the Physician Licensure Examination last August 2013.
She had her Internship at Saint Louis University- Hospital of the Sacred Heart and Pediatric
residency Training at Baguio General Hospital and Medical Center (2014- 2017). She was a
Medical Specialist II at Nueva Vizcaya Provincial Hospital, Bambang, Nueva Vizcaya (June
2017- November 2018), Medical Officer at Pines City Doctors Hospital (August 2017-
November 2018) and Medical Officer IV (December 2018-2020) at Baguio General Hospital
before she went to Fellowship Training on Clinical and Metabolic Genetics at Philippine
General Hospital, Manila (January 1, 2020 to December 31, 2021).
Currently, she is a Medical Officer IV at Baguio General Hospital and a Geneticist consultant
at Center for Human Genetics Services, National Institute of Health- Manila. She heads the
Genetics Subspecialty OPD of BGH and is a member of the Newborn screening Continuity
Clinic of Cordillera Administrative Region, Benguet, Philippines. She is a member of Baguio
Benguet Medical Society and Philippine Medical Association (September 2017), Philippine
Pediatric Society- Northern Luzon Chapter (2019) and a Diplomate of the Philippine Pediatric
Society.