An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene.
Mutations in the SLC25A13 gene lead to neonatal intrahepatic cholestasis caused by citrin deficiency and/or adult-onset type II citrullinemia (CTLN2). A 62-year-old man presented with recurrent episodes of neuropsychiatric manifestations. On admission, he had disorientation and flapping tremor. Laboratory data showed hyperferritinemia in addition to postprandial hyperammonemia and citrullinemia. A liver biopsy specimen revealed moderate hemosiderin deposits and hepatocytes with macrovesicular fat droplets. Genetic analysis of the SLC25A13 gene identified the previously reported p.S225X mutation and a novel p.D493G mutation. Hyperferritinemia might also be a characteristic finding of CTLN2-related fatty changes of the liver.
Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Faculty of Medicine, Yamagata University, Japan.
Yoshimi
Y
Takahashi
Shingo
S
Koyama
Hidetomo
H
Tanaka
Shigeki
S
Arawaka
Manabu
M
Wada
Toru
T
Kawanami
Hiroaki
H
Haga
Hisayoshi
H
Watanabe
Kentaro
K
Toyota
Chikahiko
C
Numakura
Kiyoshi
K
Hayasaka
Takeo
T
Kato
D017668:Age of Onset; D020159:Citrullinemia / Q000453:epidemiology / Q000235:genetics*; D015897:Comorbidity; D005293:Ferritins / Q000097:blood; D022781:Hepatocytes / Q000473:pathology; D006801:Humans; D019189:Iron Metabolism Disorders / Q000453:epidemiology; D007564:Japan; D008099:Liver / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*; D014463:Ultrasonography
D033681:Mitochondrial Membrane Transport Proteins; C119629:SLC25A13 protein, human; D005293:Ferritins