Inborn Errors of Metabolism

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The Institute of Human Genetics (IHG) began in 1990 as the Medical Genetics Unit of the University of the Philippines-College of Medicine which in 1999 became one of the service and research oriented institutes of the National Institutes of Health-University of the Philippines Manila (NIH-UP). Since then, IHG expanded its services to become the largest provider of genetic services in the country - providing diagnostic, research and clinical management services in support of RA 10747 or the Rare Disease Act of the Philippines and the RA 9288 or the Newborn Screening Act of 2004.

1. Rationale
Inborn Errors of Metabolism (IEMs) are genetic disorders usually caused by a deﬁciency of enzymes or its cofactors resulting to the accumulation of toxic metabolites. Nutritional management of IEMs is vital to attain good metabolic control, prevent complications, and ensure proper growth and development.
In the Philippines, there is a limited number of healthcare professionals capable of handling the Nutritional management of IEM as it requires:

Deeper knowledge of the genetic disorder and its corresponding Nutritionist restrictions
Higher competency on computing metabolic diet prescription, including the sick-day regimen and the use of the diﬀerent medical formulas

IEMs started to be detected and diagnosed in 1996 through Newborn Screening (NBS). Six diseases can be screened at the time. In 2012, Expanded Newborn Screening (ENBS) became available, allowing for up to 28 diseases to be detected. With the increase of screened diseases, the number of patients also grew.

With this, additional Nutritionist-Dietitians are needed to handle the Nutritional care of IEM patients. Workshops are necessary to train more Filipino Nutritionist-Dietitians, with the goal of giving them the capacity to provide proper Nutritional care to IEM patients within their reach.

2. Objectives
The aim of this training program is to enhance the knowledge and competency of attending clinical Nutritionist-Dietitians from newborn screening continuity clinic hospitals or other regional hospitals and public health Nutritionist-Dietitians, allowing them to manage the Nutritional needs of patients diagnosed with IEMs
At the end of the webinar-workshop, the participants must be able to:

Discuss what is Philippine Expanded Newborn Screening and its role in the prevention of mortality and development of complications IEM
Identify the role of Nutritionist-Dietitians in the system of IEM management in the Philippines (including the referral system, continuity clinics, source and allocation of medical formulas, etc.)
Discuss the basic genetics, pathophysiology, clinical features, and treatment of selected IEMs
Identify and demonstrate the Nutritional care process involved in IEM management for in- and out- patients
Enumerate strategies in conducting dietary counseling among IEM patients.
Discuss IEM dietary management in the global and local setting

3. Target Participants (REGISTRATION IS FULL)
Primary: Dietitians from Newborn Screening Continuity Clinic Hospitals
Secondary: Public Health Dietitians/ Private Hospital Dietitians

4. Expected competencies from Clinical Nutritionist-Dietitians and Public Health Dietitians:
Dietitians attending the case study and workshop are expected to perform the following:

Dietary assessment
Interpretation and Computation of IEM diet prescription
Translation of diet prescription to regular food and medical formula
Sick-day regimen computation
Planning of cycle menu for IEM patients
Counseling of IEM patients and caretakers

5. Methodology
A variety of methodologies will be used such as online lectures and presentations, small group (via breakout rooms) and large-group discussions (zoom webinar), computation workshops, case study presentations, online games, etc. Pre-tests, Post-tests and Evaluation surveys will be used as metrics for eﬀectiveness of online learning platform.

6. Topics and Speakers
Below is the list of topics and speakers expected to be discussed during the webinar series on Metabolic Dietetics:

Suggested Date	Topic	Duration	Contents	Speakers
July 28 Tuesday 2:00-4:00PM	National Comprehensive Newborn Screening System/ Role of Dietitians in the NBS Referral System	45 mins	What is NBS NBS history ENBS flow of implementation	Maria Melanie Liberty Alcausin, MD
August 4 Tuesday 2:00-4:00	Basic Genetics of Inborn Errors of Metabolism*	45 mins	Basic terms in Genetics Genetics behind IEM conditions	Mary Ann Abacan, MD
August 6 Thursday 10:00-12:00	Basic Principles in the Medical Management of Inborn Errors of Metabolism*	45 mins	Medical management of common IEMs in the Philippines Challenges and actions	Leniza De Castro- Hamoy, MD
August 11 Tuesday 2:00-4:00PM	Developmental Considerations in IEM (Rehab and psychology)*	45 mins	Normal feeding-related developmental milestones Developmental outcomes in patients with IEM and implication on feeding	Kaye Napalinga, MD
August 14 Wednesday 10:00-12:00	Dietary Management of Amino Acidopathies*	45 mins	Background Assessment Diet prescription adjustment and interpretation	Sylvia Estrada,MD
August 18 Tuesday 10:00-12:00	Case Discussion/ Computation Workshop on Amino Acidopathies**	1 hour 30 mins	Case presentation (newborn, children, maternal, in- patient) Diet planning Counseling Monitoring and Evaluation	Metab Dietitians: Aster Lynn Sur Cecilia Belen Jeanne Ruth Basas Elizabeth Limos
August 25 Tuesday 10:00-12:00	Dietary Management of Organic Acidurias*	45 mins	Background Assessment Diet prescription adjustment and interpretation	Barbra Cavan, MD
August 27 Thursday 10:00-12:00	Case Discussion/ Computation Workshop on Organic Acidurias**	1 hour 30 mins	Case presentation Diet planning Counseling Monitoring and Evaluation	Metab Dietitians: Aster Lynn Sur Cecilia Belen Jeanne Ruth Basas Elizabeth Limos
September 1 Tuesday 10:00-12:00	Dietary Management of Urea Cycle Defects*	45 mins	Background Assessment Diet prescription adjustment and interpretation	Michelle E. Abadingo, MD
September 3 Thursday 10:00-12:00	Case Discussion/ Computation Workshop on Urea Cycle Defects**	1 hour 30 mins	Case presentation Diet planning Counseling Monitoring and Evaluation	Metab Dietitians: Aster Lynn Sur Jessica Yasay Jeanne Ruth Basas Elizabeth Limos
September 8 Tuesday 2:00-4:00PM	Dietary Management of Fatty Acid Oxidation Disorders*	45 mins	Background Assessment Diet prescription adjustment and interpretation	Kristin Gonzales, MD
September 10 Thursday 10:00-12:00	Case Discussion/ Computation Workshop on Fatty Acid Oxidation Disorders**	1 hour 30 mins	Case presentation Diet planning Counseling Monitoring and Evaluation	Metab Dietitians: Aster Lynn Sur Jessica Yasay Jeanne Ruth Basas Elizabeth Limos
September 15 Tuesday 10:00-12:00	Dietary Management of Carbohydrate Metabolism Disorders*	45 mins	Background Assessment Diet prescription adjustment and interpretation	Ebner Bon Maceda, MD
September 17 Thursday 10:00-12:00	Case Discussion/ Computation Workshop on Carbohydrate Metabolism Disorders**	1 hour 30 mins	Case presentation Diet planning Counseling Monitoring and Evaluation	Metab Dietitians: Aster Lynn Sur Dominga Dawe Jeanne Ruth Basas Elizabeth Limos
September 22 Tuesday 10:00-12:00	IEM Management- Philippine Setting*	45 mins	Discussion the use of different standards and tools used in diet planning Available resources (books, journals,references)	Elizabeth Limos
September 24 Thursday 10:00-12:00	Nutrition Care Plan Strategies for IEM*	45 mins	Identified Best practices Current Status of Patients Plan of Action	Jeanne Ruth Basas
September 29 Tuesday 10:00-12:00	IEM Dietary Management: Global Perspective*	45 mins	International practice on IEM Dietary Management Updates on IEM management International Organizations	Maureen Evans, PhD (Royal Children's Hospital)

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