Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2002 Nov-Dec;5(6):597-601.
doi: 10.1007/s10024-002-0109-7. Epub 2002 Oct 10.

Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency

Toshihiko Mori  1 , Kazushige Nagai, Michio Mori, Masayoshi Nagao, Masakatsu Imamura, Mikio Iijima, Keiko Kobayashi
Affiliations
Case Reports

Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency

Toshihiko Mori et al. Pediatr Dev Pathol. 2002 Nov-Dec.

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types