Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease

Background/Aims Citrin deficiency caused by SLC25A13 gene mutations develops into adult-onset type II citrullinemia (CTLN2) and may be accompanied with hepatic steatosis and steatohepatitis. As its clinical features remain unclear, we aimed to explore the characteristics of fatty liver disease assoc...

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Bibliographic Details
Published in:Journal of hepatology 2008-11, Vol.49 (5), p.810-820
Main Authors: Komatsu, Michiharu, Yazaki, Masahide, Tanaka, Naoki, Sano, Kenji, Hashimoto, Etsuko, Takei, Yo-ichi, Song, Yuan-Zong, Tanaka, Eiji, Kiyosawa, Kendo, Saheki, Takeyori, Aoyama, Toshifumi, Kobayashi, Keiko
Format: Article
Language:English
Subjects:
Adult
Adult-onset type II citrullinemia
Aged
Aminoacid disorders
Biological and medical sciences
Body mass index
Carrier Proteins - blood
Citrullinemia - diagnosis
Citrullinemia - etiology
Citrullinemia - genetics
Citrullinemia - metabolism
Diagnosis, Differential
Errors of metabolism
Fatty Liver - diagnosis
Fatty Liver - etiology
Fatty Liver - genetics
Fatty Liver - metabolism
Female
Gastroenterology and Hepatology
Gastroenterology. Liver. Pancreas. Abdomen
Humans
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Male
Medical sciences
Membrane Transport Proteins - deficiency
Membrane Transport Proteins - genetics
Metabolic diseases
Metabolic Syndrome - complications
Middle Aged
Mitochondrial Membrane Transport Proteins
Mitochondrial Proteins - deficiency
Mitochondrial Proteins - genetics
Models, Biological
Mutation
Non-alcoholic fatty liver disease
Obesity - complications
Other diseases. Semiology
Pancreatic secretory trypsin inhibitor
Trypsin Inhibitor, Kazal Pancreatic
Young Adult
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Summary:Background/Aims Citrin deficiency caused by SLC25A13 gene mutations develops into adult-onset type II citrullinemia (CTLN2) and may be accompanied with hepatic steatosis and steatohepatitis. As its clinical features remain unclear, we aimed to explore the characteristics of fatty liver disease associated with citrin deficiency. Methods The prevalence of hepatic steatosis in 19 CTLN2 patients was examined, and clinical features were compared with those of non-alcoholic fatty liver disease (NAFLD) patients without known SLC25A13 gene mutations. Results Seventeen (89%) CTLN2 patients had steatosis, and 4 (21%) had been diagnosed as having NAFLD before appearance of neuropsychological symptoms. One patient had steatohepatitis. Citrin deficiency-associated fatty livers showed a considerably lower prevalence of accompanying obesity and metabolic syndrome, higher prevalence of history of pancreatitis, and higher serum levels of pancreatic secretory trypsin inhibitor (PSTI) than fatty livers without the mutations. Receiver operating characteristic curve analyses revealed that a body mass index < 20 kg/m2 and serum PSTI > 29 ng/mL were associated with citrin deficiency. Conclusions Patients presenting with non-alcoholic fatty liver unrelated to obesity and metabolic syndrome might have citrin deficiency, and serum PSTI may be a useful indicator for distinguishing this from conventional NAFLD.
ISSN:0168-8278
1600-0641
DOI:10.1016/j.jhep.2008.05.016