Adult onset type II citrullinemia as a cause of non-alcoholic steatohepatitis.
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.
Takagi
Hitoshi
H
Department of Medicine and Molecular Science, Graduate School of Medicine, Gunma University, Showa-machi 3-39, Maebashi, Gunma 371-8511, Japan. htakagi@med.gunma-u.ac.jp
Hagiwara
Satoshi
S
Hashizume
Hiroaki
H
Kanda
Daisuke
D
Sato
Ken
K
Sohara
Naondo
N
Kakizaki
Satoru
S
Takahashi
Hitomi
H
Mori
Masatomo
M
Kaneko
Hiroaki
H
Ohwada
Susumu
S
Ushikai
Miharu
M
Kobayashi
Keiko
K
Saheki
Takeyori
T
D000293:Adolescent; D000328:Adult; D020159:Citrullinemia / Q000097:blood / Q000150:complications* / Q000235:genetics; D004247:DNA / Q000235:genetics; D005234:Fatty Liver / Q000209:etiology* / Q000473:pathology; D005819:Genetic Markers; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation; D016133:Polymerase Chain Reaction
D005819:Genetic Markers; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; C119629:SLC25A13 protein, human; D004247:DNA