title: Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency.
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.
authors.affiliation: Department of Pediatrics, Otaru Kyokai Hospital, 1-6-15 Suminoe, Otaru, Hokkaido 047-8510, Japan. toshihiko_mori@smc.mhc.east.ntt.co.jp
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Mori
authors.forename: Kazushige
authors.initials: K
authors.lastname: Nagai
authors.forename: Michio
authors.initials: M
authors.lastname: Mori
authors.forename: Masayoshi
authors.initials: M
authors.lastname: Nagao
authors.forename: Masakatsu
authors.initials: M
authors.lastname: Imamura
authors.forename: Mikio
authors.initials: M
authors.lastname: Iijima
authors.forename: Keiko
authors.initials: K
authors.lastname: Kobayashi
mesh_terms: D001120:Arginine / Q000627:therapeutic use; D056807:Argininosuccinic Aciduria; D018753:Diet, Protein-Restricted; D018450:Disease Progression; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology / Q000503:physiopathology; D008103:Liver Cirrhosis / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D008137:Longitudinal Studies; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications
chemical_list: D001120:Arginine