AUTHOR=Kansu Aydan , Kuloglu Zarife , Tümgör Gökhan , Taşkın Didem Gülcü , Dalgıç Buket , Çaltepe Gönül , Demirören Kaan , Doğan Güzide , Tuna Kırsaçlıoğlu Ceyda , Arslan Duran , Işık İshak Abdurrahman , Demir Hülya , Bekem Özlem , Şahin Yasin , Bayrak Nevzat Aykut , Selimoğlu Mukadder Ayşe , Yavuz Sibel , Taşkaya İbrahim Ethem , Altay Derya , the VICTORIA Study Group , Taşkın Didem Gülcü , Bükülmez Ayşegül , Demir Arzu Meltem , Tokgöz Yavuz , Kansu Aydan , Kuloğlu Zarife , Kırsaçlıoğlu Ceyda Tuna , Ayyıldız Hasret , Kutluk Günsel , Başaran Meryem Keçeli , Sezer Oya Balcı , Özkan Tanju Başarır , Özgür Taner , Üstündağ Gonca Handan , Somuncu Eda , Tümgör Gökhan , Yavuz Sibel , İşlek Ali , Hoşnut Ferda Özbay , Şahin Gülseren Evirgen , Arslan Duran , Altay Derya , Doğan Yaşar , Deveci Uğur , Dalgıç Buket , Ceylan Kamercan , Baştürk Ahmet , Balamtekin Necati , Arslan Melike , Demir Hülya , Gülşen Hayriye Hızarcıoğlu , Doğan Güzide , Comba Atakan , Selimoğlu Mukadder Ayşe , Varol İlknur , Çam Sebahat , Sevinç Eylem , Doğan Erkan , Çakır Murat , Güven Burcu , Selbuz Suna , Gülerman Hacer Fulya , Arslan Zeynep , Uncuoğlu Ayşen , Kaya Neslihan Gürcan , Ertem Deniz , Tutar Engin , Volkan Burcu , Şahin Yasin , Usta Yusuf , Karhan Asuman Nur , Çaltepe Gönül , Taşkaya İbrahim Ethem , Kocamaz Halil , Koca Tuğba Gürsoy , Ünal Fatih , Öztürk Birol , Altuntaş Cansu , Emiroğlu Halil Haldun , Gümüş Meltem , Akçam Mustafa , Appak Yeliz Çağan , Aksoy Betül , Sağ Elif , Işık İshak Abdurrahman , Akbulut Ulaş Emre , Bekem Özlem , Erdur Cahit Barış , Urgancı Nafiye , Usta Ayşe Merve , Çeltik Coşkun , Gerenli Nelgin , Bayrak Nevzat Aykut , Demirören Kaan TITLE=The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study JOURNAL=Frontiers in Pediatrics VOLUME=11 YEAR=2023 URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1272177 DOI=10.3389/fped.2023.1272177 ISSN=2296-2360 ABSTRACT=Introduction

Elevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.

Methods

This multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.

Results

Overall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).

Discussion

Questioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases.

Trial Registration

Clinicaltrials.gov NCT04120168.