Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy.
We describe 2 patients with adult-onset type II citrullinemia who developed transient hypoproteinemia and jaundice in early infancy. Liver histology showed a marked fatty change and fibrosis. After the patients had lived without symptoms to the ages of 5 and 16 years, respectively, the diagnosis was made by genetic analysis.
Tomomasa
T
T
Department of Pediatrics, Second Department of Surgery, and Division of Diagnostic Pathology, Gunma University School of Medicine, Maebashi, Japan.
Kobayashi
K
K
Kaneko
H
H
Shimura
H
H
Fukusato
T
T
Tabata
M
M
Inoue
Y
Y
Ohwada
S
S
Kasahara
M
M
Morishita
Y
Y
Kimura
M
M
Saheki
T
T
Morikawa
A
A
D000293:Adolescent; D001706:Biopsy; D002675:Child, Preschool; D020159:Citrullinemia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005234:Fatty Liver / Q000473:pathology; D005260:Female; D005838:Genotype; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction