Adult onset type II citrullinemia as a cause of non-alcoholic steatohepatitis

Hitoshi Takagi; Satoshi Hagiwara; Hiroaki Hashizume; Daisuke Kanda; Ken Sato; Naondo Sohara; Satoru Kakizaki; Hitomi Takahashi; Masatomo Mori; Hiroaki Kaneko; Susumu Ohwada; Miharu Ushikai; Keiko Kobayashi; Takeyori Saheki

doi:10.1016/j.jhep.2005.08.024

Adult onset type II citrullinemia as a cause of non-alcoholic steatohepatitis

J Hepatol. 2006 Jan;44(1):236-9. doi: 10.1016/j.jhep.2005.08.024. Epub 2005 Sep 26.

Authors

Hitoshi Takagi¹, Satoshi Hagiwara, Hiroaki Hashizume, Daisuke Kanda, Ken Sato, Naondo Sohara, Satoru Kakizaki, Hitomi Takahashi, Masatomo Mori, Hiroaki Kaneko, Susumu Ohwada, Miharu Ushikai, Keiko Kobayashi, Takeyori Saheki

Affiliation

¹ Department of Medicine and Molecular Science, Graduate School of Medicine, Gunma University, Showa-machi 3-39, Maebashi, Gunma 371-8511, Japan. [email protected]

PMID: 16278034
DOI: 10.1016/j.jhep.2005.08.024

Abstract

Adult onset type II citrullinemia (CTLN2) is an autosomal recessive disease accompanied with hyperammonemia and a sudden onset of psychiatric disorders. We demonstrated three male patients with CTLN2 having a liver histology of non-alcoholic steatohepatitis (NASH). Patients with NASH were analyzed for the causative gene of CTLN2, SLC25A13 and discussed.

Publication types

Case Reports

MeSH terms

Adolescent
Adult
Citrullinemia / blood
Citrullinemia / complications*
Citrullinemia / genetics
DNA / genetics
Fatty Liver / etiology*
Fatty Liver / pathology
Genetic Markers
Humans
Male
Membrane Transport Proteins / genetics
Mitochondrial Membrane Transport Proteins
Mitochondrial Proteins / genetics
Mutation
Polymerase Chain Reaction

Substances

Genetic Markers
Membrane Transport Proteins
Mitochondrial Membrane Transport Proteins
Mitochondrial Proteins
SLC25A13 protein, human
DNA