Turkish Journal of Gastroenterology

Inborn errors of metabolism in the differential diagnosis of fatty liver disease


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; 31: 3-16
DOI: 10.5152/tjg.2019.19367
Read: 439 Downloads: 282 Published: 30 January 2020

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.

Cite this article as: Yıldız Y, Sivri HS. Inborn errors of metabolism in the differential diagnosis of fatty liver disease. Turk J Gastroenterol 2020; 31(1): 3-16.

EISSN 2148-5607