28 May 2022- Saturday
Thematic Session on Newborn Screenings and Inherited Metabolic Disorders

Time Hall A
13:00–15:30 Current Problems and Solution Suggestions in Inherited Metabolic Disorders
Session Chairs: Dr. Mahmut Çoker, Dr. Mehmet Gündüz
  13:00–13:30 Our Current Problems in Pediatric Metabolic Diseases Specialization Clinical Practice
Speaker: Dr. Neslihan Önenli Mungan
(Topics: Drug Reimbursement, Sustainably Expensive Prescribing Competence)
  13:30–14:00 SUT (Health Practice Statement) Applications in Diagnostic Tests in Inherited Metabolic Diseases “Out-of-pocket” Expenditures
Speaker: Dr. Çiğdem Aktuğlu Zeybek
  14:00-14:20 TİTCK (Turkish Medicines and Medical Devices Agency)
Speaker: Dr. İbrahim Muaz Yaradılmış
  14:20-14:40 SGK (Social Security Institution)
Speaker: Dr. İ. Tuncay Alkan
  14:40-15:00 AIFD (Association of Research-Based Pharmaceutical Companies)
Speaker: Dr. Ecz. Nihan Burul Bozkurt
  15:00-15:30 Discussion
15:30-16:00 Coffee Break
16:00–18:00 Past, Present and Future in Newborn Screenings
Session Chairs: Dr. Turgay Coşkun, Dr. Mübeccel Demirkol
  16:00-16:45 Ministry of Health, General Directorate of Public Health: Today and Future ofInherited Metabolic Disease Screening in Our Country
Speaker: Dr. Başak Tezel
  16:45-17:30 Inherited Metabolic Diseases Suggested Priority Screening in Our Country in the Light of World Experience
Speaker: Dr. Gülden Gökçay
  17:30-18:00 Discussion



29 May 2022, Sunday
Congress

Time Hall A Hall B
08:30-09:00 Registration  
09:00-09:45 Opening:  Dr. Nur Arslan  
09:45-10:45 rof. Dr. İmran Özalp Session: Phenylketonuria in Adult Age
Session Chairs: Dr. Fatoş Tanzer, Dr. Mustafa Kendirci

Management of the Adult Patient with Phenylketonuria
Speaker: Dr. Mübeccel Demirkol
 
10:45-11:15 Coffee Break
11:15-12:00  Multi-omics for Mitochondrial Disease-Impact on Diagnostics and Treatment
Session Chairs: Dr. Turgay Coşkun, Dr. Gülden Gökçay
Speaker: Dr. Saskia Wortmann
 
12:00-13:00 Lunch
13:00-13:45
Satellite Symposium: Updates on Gaucher Disease Accompanied by Cases and Long Term Imiglucerase Experience
Oturum Başkanı: Dr. Mahmut Çoker
Speakers: Dr. Fatma Tuba Eminoğlu, Dr. Fatma Derya Bulut
13:45-14:30  An Overview of Galactosemia
Session Chairs: Dr: Mübeccel Demirkol, Dr. Selda Bülbül
Speaker: Dr. Gerard Berry
 
14:30-15:00 Coffee Break
15:00-15:45 Satellite Symposium: Carglumic Acid in Acute Attack and Long Term Use
Oturum Başkanı: Dr. Fatih Kardaş
Speaker: Dr. Ertuğrul Kıykım
 
15:45-16:30 Metabolic Diseases and Skeletal System
Session Chairs: Dr. Halil Sağlam, Dr. Halil İbrahim Aydın
Speaker: Dr. Çiğdem Seher Kasapkara
Oral Presentations
Session Chairs: Dr. Özlem Ünal Uzun, Dr. Deniz Kor
16:30-17:15 Let's Not Forget Carbohydrate Metabolism Disorders
Session Chairs: Dr. Mustafa Kendirci, Dr. Mehmet Gündüz

Fructose 1,6 biphosphatase Deficiency
Speaker: Dr. Işıl Özer

Hereditary Fructose Intoleranceı
Speaker: Dr. M. Asburçe Bike Olgaç
Oral Presentations
Session Chairs: Dr. Fatma Tuba Eminoğlu, Dr. Ertuğrul Kıykım




30 May 2022, Monday
Congress

Time Hall A Hall B
08:00-09:00 Young Metabolism Specialists Session with Cases-1
Session Chairs: Dr. Halil Sağlam, Dr. Özlem Ünal Uzun

Patient Presenting with Acidosis
Speaker: Dr. Şahin Erdöl

Patient Presenting with Hyperammonemia
Speaker: Dr. Fatma Tuba Eminoğlu
Young Metabolism Specialists Session with Cases - 2
Session Chairs: Dr. Çiğdem Seher Kasapkara, Dr. Berna Şeker Yılmaz

MADD
Speaker: Dr. Asburçe Bike Olgaç

Porphyria
Speaker: Dr. Ebru Canda

Prolidase Deficiency
Speaker: Dr. Yılmaz Yıldız
09:00-09:45 Microbiota in Metabolic Diseases
Session Chairs: Dr. Mahmut Çoker, Dr. Nur Arslan
Speaker: Dr. Turgay Coşkun
Oral Presentations
Session Chairs: Dr. Halil İbrahim Aydın, Dr. Nafiye Emel Çakar
09:45-10:30 Satellite Symposium: Tyrosinemia Type 1 from Past to Present
Session Chairs: Dr. Gülden Gökçay, Dr. Mehmet Gündüz
Speaker: Dr. Çiğdem Aktuğlu Zeybek
 
10:30-11:00 Coffee Break
11:00-11:45 Metabolic Diseases and Cancer
Session Chairs: Dr. Halil İbrahim Aydın, Dr. Mehmet Nuri Özbek
Speaker: Dr. Ali Dursun
Oral Presentations
Session Chairs: Dr. Çiğdem Seher Kasapkara, Dr. Berna Şeker Yılmaz
11:45-12:30  Satellite Symposium Taliglucerase alfa: World and Turkey Experience
Oturum Başkanı: Dr. Selda Bülbül
Speakers: Dr. Pascal Cullufi, Dr. Neslihan Önenli Mungan
 
12:30-13:30 Lunch
13:30-14:15 Main Principles of Gene Therapy in Metabolic Diseases
Session Chairs: Dr. Sema Kalkan Uçar, Dr. Çiğdem Aktuğlu Zeybek
Speaker: Dr. Berna Şeker Yılmaz
Oral Presentations
Session Chairs: Dr. Selda Bülbül, Dr. Şahin Erdöl
14:15-14:45 Coffee Break
14:45-15:30 Satellite Symposium: Management of the Patient with Fabry by Cases
Oturum Başkanı: Dr. Nur Arslan
Speakers: Dr. Nur Arslan,Dr. Burcu Öztürk Hişmi
 
15:30-16:15 How to Tell if a Novel Mutation Causes Disease: Functional Studies
Session Chairs: Dr. Ali Dursun, Dr. Rıza Köksal Özgül
Speaker: Dr. Mustafa Tekin
Oral Presentations
Session Chairs: Dr. Işıl Özer, Dr. Ebru Canda
16:15-17:00  Individualized Therapies For Rare/Orphan Diseases: Opportunities and Challenges
Session Chairs: Dr. Neslihan Önenli Mungan, Dr. Burcu Öztürk Hişmi
Speaker: Dr. Timothy Yu
 
17:00-18:45 Poster Discussions
Dr. Burcu Öztürk Hişmi, Dr. Aynur Küçükçongar Yavaş, Dr. Mehmet Cihan Balcı, Dr. Yılmaz Yıldız, Dr. Abdurrahman Akgün, Dr. Aslı İnci, Dr. Emine Pektaş, Dr. Deniz Kor, Dr. Nafiye Emel Çakar, Dr. Tanyel Zübarioğlu, Dr. M. Asburçe Bike Olgaç. Kılıçkaya, Dr. Engin Köse
 



31 May 2022, Tuesday
Congress

Time Hall A Hall B
08:00-09:00 Young Metabolism Specialists Session with Cases-3
Session Chairs: Dr. Yaşar Cesur, Dr. Mustafa Kılıç

Patient Presenting with Hypoglycemia
Speaker: Dr. Hasan Önal

Vaccination of the Metabolism Patient
Speaker: Dr. Selda Bülbül
Young Metabolism Specialists Session with Cases-4
Session Chairs: Dr. Mehmet Nuri Özbek, Dr. Ertuğrul Kıykım

Homocystinuria
Speaker: Dr. Emel Çakar

Methylmalonic Acidemia
Speaker: Dr. Abdurrahman Akgün

MSUD
Speaker: Dr. Emine Pektaş
09:00-09:45  Vitamin B6 Metabolism Disorders: Phenotypes and Treatment Outcomes
Session Chairs: Dr. Gülden Gökçay, Dr. Sema Kalkan Uçar
Speaker: Dr. Saadet Andrews
Oral Presentations
Session Chairs: Dr. Hasan Önal, Dr. Aynur Küçükçongar Yavaş
09:45-10:30 Satellite Symposium: The Mystery of Niemann Pick's Type C Disease
Oturum Başkanı: Dr. Nur Arslan
Speakers: Dr. Özlem Ünal Uzun, Dr. Tanyel Zübarioğlu
 
10:30-11:00 Coffee Break
11:00-11:45 Defects of Primary Neurotransmitter Metabolism - Overview of AADC Deficiency
Session Chairs: Dr. Neslihan Önenli Mungan, Dr. Çiğdem Aktuğlu Zeybek
Speaker: Dr. Fatih Suheyl Ezgü
Oral Presentations
Session Chairs: Dr. Mustafa Kılıç, Dr. Burcu Öztürk Hişmi
11:45-12:30 Satellite Symposium: Beyond the Visible in Gaucher Disease Velaglucerase alfa Effect
Oturum Başkanı: Sema Kalkan Uçar
Speakers: Dr. Deniz Kor, Dr. Ebru Canda
 
12:30-13:30 Lunch
13:30-14:15 Diagnostic Journey of Difficult Cases-Interactive Session
Session Chairs: Dr. Ali Dursun
Speaker: Dr. Hasan Önal
 
14:15-15:00 Rational Drug Use in Metabolic Diseases
Speaker: Dr. Fatih Kardaş
 



1 June 2022, Wednesday1 June 2022, Wednesday
Congress

Time Hall A Hall B
08:00-09:00 Young Metabolism Specialists Session with Cases-5
Session Chairs: Dr. Mehmet Keskin, Dr. Tanyel Zübarioğlu

Patient Presenting with Skin Findings
Speaker: Dr. Halil İbrahim Aydın

Patient Presenting with Diarrhea
Speaker: Dr. Nur Arslan
Young Metabolism Specialists Session with Cases-6
Session Chairs: Dr. Işıl Özer, Dr. Şahin Erdöl

Non-ketotic Hyperglycinemia
Speaker: Dr. Mustafa Kılıç

Patient Presenting with Diarrhea
Speaker: Dr. Engin Köse

Glutaric Aciduria type 1
Speaker: Dr. Mehmet Cihan Balcı
09:00 -09:45 Treatments in Congenital Glycosylation Defects
Session Chairs: Dr. Nur Arslan, Dr. Hasan Önal
Speaker: Dr. Sema Kalkan Uçar
 
09:45-10:15 Coffee Break
10:15-11:00 Leukodystrophies as a Sign of Metabolic Diseases
Session Chairs: Dr. Selda Bülbül, Dr. Ertuğrul Kıykım

X-ALD
Speaker: Dr. Aynur Küçükçongar Yavaş

MLD, Krabbe
Speaker: Dr. Özlem Ünal Uzun
 
11:00-11:45 Urea Cycle Defects (Late Onset Forms)
Session Chairs: Dr. Sema Kalkan Uçar, Dr. Mustafa Kılıç

OTC deficiency- Citrullinemia
Speaker: Dr. Fatih Kardaş

Citrine Deficiency
Speaker: Dr. Burcu Öztürk Hişmi
 
12:00 Closing  

Simultaneous translation will be provided.