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Turkish Journal of Medical Sciences

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.

Author ORCID Identifier

EKİN ÖZSAYDI AKTAŞOĞLU: 0000-0002-3735-7439

ASLI İNCİ: 0000-0002-0561-2060

RIDVANRIDVAN MURAT ÖKTEM: 0000-0002-9882-2883

GÜRSEL BİBEROĞLU: 0000-0001-9469-993X

İLYAS OKUR: 0000-0002-8772-0689

FATİH SÜHEYL EZGÜ: 0000-0001-9497-3118

FİLİZ BAŞAK CENGİZ ERGİN: 0000-0002-1374-5939

ABDURRAHMAN AKGÜN: 0000-0002-2917-2469

NUR ARSLAN: 0000-0003-3151-3741

HALİL İBRAHİM AYDIN: 0000-0001-7994-4394

AYŞE ERGÜL BOZACI: 0000-0002-9783-1016

MAHMUT ÇOKER: 0000-0002-6308-6804

FATMA TUBA EMİNOĞLU: 0000-0002-5880-1113

MELİKE ERSOY: 0000-0002-2316-0790

EMİNE GÖKSOY: 0000-0002-9742-2087

BANU KADIOĞLU YILMAZ: 0000-0002-5521-7659

MEHTAP KAĞNICI: 0000-0002-7071-9200

MUSTAFA KILIÇ: 0000-0002-1401-5233

NESLİHAN ÖNENLİ MUNGAN: 0000-0001-7862-3038

BURCU ÖZTÜRK HIŞMİ: 0000-0001-7146-0248

PEMBE SOYLU ÜSTKOYUNCU: 0000-0001-9867-1280

AYŞEGÜL TOKATLI: 0000-0003-2812-9319

AYŞE ÇİĞDEM AKTUĞLU ZEYBEK: 0000-0001-7256-0750

BERRAK BİLGİNER GÜRBÜZ: 0000-0002-6197-0647

SEVİL DORUM: 0000-0001-6947-2573

DİLEK GÜNEŞ: 0000-0002-0112-0624

ÇİĞDEM SEHER KASAPKARA: 0000-0002-3569-276X

SEBİLE KILAVUZ: 0000-0002-7527-2620

ERDOĞAN SOYUÇEN: 0000-0002-2500-7028

PELİN TEKE KISA: 0000-0001-6481-3172

ÖZLEM ÜNAL UZUN: 0000-0001-7937-7721

FATMA DERYA BULUT: 0000-0003-0529-2404

SONGÜL GÖKAY: 0000-0003-3845-8431

SELEN HAS ÖZHAN: 0000-0002-6079-5517

DENİZ KOR: 0000-0001-7659-0500

AYNUR KÜÇÜKCONGAR YAVAŞKÜÇÜKÇONGAR YAVAŞ: 0000-0002-4766-300X

FİGEN ÖZÇAY: 0000-0002-5214-516X

YILMAZ YILDIZ: 0000-0001-9076-1388

HARUN YILDIZ: 0000-0002-1918-2575

LEYLA TÜMER: 0000-0002-7831-3184

DOI

10.55730/1300-0144.6005

Keywords

Acid maltase deficiency, Delphi study, expert opinion, infantile onset Pompe disease, Turkish consensus

First Page

585

Last Page

594

Publisher

The Scientific and Technological Research Council of Türkiye (TÜBİTAK)

Creative Commons License

Creative Commons Attribution 4.0 International License
This work is licensed under a Creative Commons Attribution 4.0 International License.

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