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Exploring metabolic etiologies of MAFLD in children with normal BMI
Ece Öge Enver1, Ezgi Dilan Şencan2, Özlem Kalaycık Şengül3, Sebahat Çam3, Yasemin Akın41Division of Inherited Metabolic Disorders and Nutrition, Department of Pediatrics, Kartal Dr. Lütfi Kırdar City Hospital, İstanbul, Turkey2Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Göztepe Prof. Dr. Süleyman Yalçın City Hospital, İstanbul, Turkey
3Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Istanbul Medeniyet University School of Medicine, Göztepe Prof. Dr. Süleyman Yalçın City Hospital, İstanbul, Turkey
4Department of Pediatrics, Kartal Dr. Lütfi Kırdar City Hospital, İstanbul, Turkey
INTRODUCTION: Metabolic dysfunction-associated fatty liver disease (MAFLD) is increasingly recognized in children with a normal body mass index (BMI), and its etiology is generally associated with metabolic, genetic, and environmental factors. Although childhood obesity is a well-known cause of MAFLD, the condition can also develop in non-obese children, often due to underlying metabolic disorders.
METHODS: This retrospective, cross-sectional study was conducted over a three-year period at a Pediatric Gastroenterology Clinic. Initially, 253 pediatric patients diagnosed with hepatic steatosis by abdominal ultrasound were screened. After excluding overweight children and children with obesity, 20 non-obese patients with hepatic steatosis were included in the final analysis. The study focused on identifying secondary causes of hepatic steatosis in this cohort by collecting demographic, clinical, biochemical, and metabolic data.
RESULTS: Of the 20 non-obese children evaluated by a pediatric metabolic specialist, two were diagnosed with a metabolic disease. Significant biochemical markers, such as elevated serum triglyceride, ALT, and AST levels, prompted further metabolic investigations, enabling early diagnosis and treatment.
DISCUSSION AND CONCLUSION: This study highlights the critical role of metabolic and genetic screening in the evaluation of hepatic steatosis in non-obese children, particularly during infancy and early childhood. Early identification of underlying metabolic disorders may enable appropriate intervention and help prevent long-term complications. Non-obese pediatric MAFLD requires careful evaluation and targeted metabolic testing to achieve timely treatment and improved outcomes.
Keywords: Metabolic dysfunction, non-obese children, pediatric MAFLD, rare diseases.
Manuscript Language: English
