Pediatric Metabolic Diseases Unit, Dr. Sami Ulus Training and Research Hospital for Maternity and Children's Health and Diseases, Ankara, Turkey.
Division of Metabolic Diseases, Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey.
Turk J Gastroenterol. 2020 Jan;31(1):3-16. doi: 10.5152/tjg.2019.19367.
Nonalcoholic fatty liver disease (NAFLD) has become the most common chronic liver disease across all age groups. Obesity, diabetes, and metabolic syndrome, are the primary causes that are closely linked with the development of NAFLD. However, in young children, rare inborn errors of metabolism are predominant secondary causes of NAFLD. Furthermore, inborn errors of metabolism causing hepatosteatosis are often misdiagnosed as NAFLD in adolescents and adults. Many inborn errors of metabolism are treatable disorders and therefore require special consideration. This review aims to summarize the basic characteristics and diagnostic clues of inborn errors of metabolism associated with fatty liver disease. A suggested clinical and laboratory diagnostic approach is also discussed.
非酒精性脂肪性肝病（NAFLD）已成为各年龄段人群中最常见的慢性肝病。肥胖、糖尿病和代谢综合征是与 NAFLD 发展密切相关的主要原因。然而，在幼儿中，罕见的先天性代谢缺陷是导致 NAFLD 的次要原因。此外，导致肝脂肪变性的先天性代谢缺陷在青少年和成人中常被误诊为 NAFLD。许多先天性代谢缺陷是可治疗的疾病，因此需要特别考虑。本综述旨在总结与脂肪性肝病相关的先天性代谢缺陷的基本特征和诊断线索。还讨论了一种建议的临床和实验室诊断方法。
