Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.
Özlem Ünal Uzun, Ayşegül Tokatli, Ayşe Çiğdem Aktuğlu Zeybek, Berrak Bilginer Gürbüz, Sevil Dorum, Dilek Güneş, Çiğdem Seher Kasapkara, Sebile Kilavuz, Erdoğan Soyuçen, Pelin Teke Kisa, Pembe Soylu Üstkoyuncu, Fatma Derya Bulut, Songül Gökay, Selen Has Özhan, Deniz Kor, Aynur Küçükçongar Yavaş, Figen Özçay, Yılmaz Yildiz, Harun Yildiz, Leyla Tümer, Ayşe Ergül Bozaci, Aslı Inci, Rıdvan Murat Öktem, Gürsel Biberoğlu, İlyas Okur, Fatih Süheyl Ezgü, Filiz Başak Cengiz Ergin, Abdurrahman Akgün, Nur Arslan, Halil İbrahim Aydin, Ekin Özsaydi Aktaşoğlu, Mahmut Çoker, Fatma Tuba Eminoğlu, Melike Ersoy, Emine Göksoy, Banu Kadioğlu Yilmaz, Mehtap Kağnici, Mustafa Kiliç, Neslihan Önenli Mungan, Burcu Öztürk Hişmi
Journal: Turkish journal of medical sciences
2025;55(3):585-594
PMID: 40686712
Abstract
BACKGROUND/AIM
Pompe disease (acid maltase deficiency, glycogen storage disease type II, OMIM #606800) is an autosomal recessive disorder characterized by lysosomal acid-α-glucosidase deficiency. The infantile-onset type of the disease is mainly characterized by cardiomegaly, hypotonia, and a high mortality rate. This study aimed to create a national consensus about infantile-onset Pompe disease (IOPD) to raise awareness among clinicians and standardize diagnosis and treatment approaches in Türkiye.
MATERIALS AND METHODS
The Gazi University Division of Metabolic Diseases and Nutrition developed this expert opinion consensus and expanded it to include metabolism specialists across Türkiye. A systematic literature review was performed, and the Delphi method was used to evaluate the results.
RESULTS
Seventeen conclusive questions were produced about clinical presentation, diagnosis, and treatment, and 14 reached a consensus. Consensus was reached that general hypotonia is one of the most important findings, and agreement was also achieved on the starting dose of treatment for presymptomatic patients. The contributors agreed that gene therapy is a good treatment option for IOPD in the future.
CONCLUSION
The topics related to this consensus will help physicians in Türkiye and elsewhere with high incidence rates of IOPD, especially regarding diagnosis and treatment decisions.
© TÜBİTAK.
Address:
Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Faculty of Medicine, Fırat University, Elazığ, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Faculty of Medicine, Başkent University, Ankara, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Manisa City Hospital, Manisa, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, İzmir, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Bakırköy Dr. Sadi Konuk Reseach and Training Hospital, University of Health Sciences, İstanbul, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Faculty of Medicine, Adnan Menderes University, Aydın, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Faculty of Medicine, Selçuk University, Konya, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Antalya Training and Research Hospital, Antalya, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Ankara Etlik City Hospital, University of Health Sciences, Ankara, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Faculty of Medicine, Çukurova University, Adana, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Faculty of Medicine, Marmara University, İstanbul, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Kayseri City Hospital, Kayseri, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Faculty of Medicine, İstanbul University - Cerrahpasa, İstanbul, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Ankara Bilkent City Hospital, Ankara, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Bursa Yüksek İhtisas Training and Research Hospital, University of Health Sciences, Bursa, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Bağcılar Training and Research Hospital, İstanbul, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara Yıldırım Beyazıt University, Ankara, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Van Training and Research Hospital, University of Health Sciences, Van, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Faculty of Medicine, Akdeniz University, Antalya, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Behçet Uz Children Research and Training Hospital, University of Health Sciences, İzmir, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Faculty of Medicine, Kocaeli University, Kocaeli, Turkiye.; Division of Metabolic Diseases and Nutrition, Department of Pediatrics, Ankara Etlik City Hospital, Ankara, Turkiye.; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Başkent University, Ankara, Turkiye.
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