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Review
. 2020 Jan;31(1):3-16.
doi: 10.5152/tjg.2019.19367.

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

Yılmaz Yıldız  1 , Hatice Serap Sivri  2
Affiliations
Review

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

Yılmaz Yıldız et al. Turk J Gastroenterol. 2020 Jan.

Abstract

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.

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Conflict of interest statement

Conflict of interest: The authors have no conflict of interest to declare.

Figures

Figure 1
Figure 1
Suggested diagnostic approach for IEMs in patients with fatty liver disease (2,5,10).
See this image and copyright information in PMC

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