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

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YILDIZ Y., SİVRİ H. S.

TURKISH JOURNAL OF GASTROENTEROLOGY, cilt.31, sa.1, ss.3-16, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 31 Sayı: 1
  • Basım Tarihi: 2020
  • Doi Numarası: 10.5152/tjg.2019.19367
  • Dergi Adı: TURKISH JOURNAL OF GASTROENTEROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.3-16
  • Anahtar Kelimeler: Inborn errors of metabolism, liver steatosis, metabolic diseases, nonalcoholic fatty liver disease, steatohepatitis, GLYCOGEN-STORAGE-DISEASE, ACID OXIDATION DISORDERS, PHENOTYPIC SPECTRUM, DEFICIENCY, FEATURES, FAILURE, HYPOBETALIPOPROTEINEMIA, IDENTIFICATION, CHOLESTEROL, INVOLVEMENT
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.