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Byline: Toshihiko Mori (), Kazushige Nagai (), Michio Mori (), Masayoshi Nagao (), Masakatsu Imamura (), Mikio Iijima (), Keiko Kobayashi () Abstract: A 4-month-old boy, with late-onset argininosuccinate lyase (ASL) deficiency with hepatomegaly, was treated by protein restricted diet and arginine supplementation he was followed for 3 years. Hepatomegaly and mild liver dysfunction persisted without significant hyperammonemia. He maintained normal psychomotor development to the age of 12 months, but, at 3 years of age, his developmental status is in the borderline normal range. Liver biopsy performed at 12 months of age demonstrated swollen and pale hepatocytes with abnormal glycogen deposition and mild periportal fibrosis. A subsequent liver biopsy at 3 years of age showed progressive liver fibrosis in the periportal and central areas, which extended into the liver lobule. These findings suggest that liver impairment in ASL deficiency may advance without significant hyperammonemia and underline the importance of repeated liver biopsy in this disorder, even when the plasma ammonia level is well controlled. Author Affiliation: () Department of Pediatrics, Otaru Kyokai Hospital, 1-6-15 Suminoe, Otaru, Hokkaido 047-8510, Japan, JP () Department of Pathology, Otaru Kyokai Hospital, Otaru, Hokkaido 047-8510, Japan, JP () Department of Pediatrics, Nishi-Sapporo Hospital, Sapporo, Hokkaido 063-0005, Japan, JP () Department of Pathology, Hokkaido Children's Hospital and Medical Center, Otaru, Hokkaido 047-0261, Japan, JP () Department of Biochemistry, Faculty of Medicine, Kagoshima University, Kagoshima 890-8520, Japan, JP Article History: Received Date: 11/01/2002 Accepted Date: 30/07/2002

The proband was born at 36 weeks, appropriate for gestational age, to nonconsanguineous white parents. There was no evidence of hyperbilirubinemia or intrahepatic cholestasis in the neonatal period, and she [...]