Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Full Text (PDF)
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Koike, R.
Right arrow Articles by Saheki, T.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Koike, R.
Right arrow Articles by Saheki, T.
NEUROLOGY 1987;37:1813
© 1987 American Academy of Neurology

Hyperornithinemia, hyperammonemia, and homocitrullinuria

Case report and biochemical study

R. Koike, MD, K. Fujimori, MD, T. Yuasa, MD, T. Miyatake, MD, I. Inoue, MD and T. Saheki, MD

Department of Neurology (Drs. Koike, Fujimori, Yuaaa, and Miyatake), Brain Research Institute, Niigata University, Niigata, and the Department of Biochemistry (Drs. Inoue and Saheki), Faculty of Medicine, Kagoshima University, Kagoshima, Japan.

Two siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria are reported. The clinical picture included protein intolerance, mental retardation, seizures, and stuporous episodes. One patient had cerebellar ataxia, myoclonus, convulsive seizure, and muscular weakness in both legs. Isolated liver mitochondria in the patient revealed that ornithine transport and citrulline synthesis were decreased, but urea cycle enzymes and ornithine aminotransferase were normal. Ornithine metabolism was decreased in cultured skin fibroblasts.

Address correspondence and reprint requests to Dr. Koike, Department of Neurology, Brain Research Institute, Niigata University, Asahimach 1, Niigata, 951 Japan.

Supported by a research grant from the Ministry of Health and Welfare, Japan.

Received November 17, 1986. Accepted for publication in final form February 12, 1987.






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 1987 by AAN Enterprises, Inc.