1971•PEDIATRICSRequires access

HYPERAMMONEMIA DUE TO A MUTANT ENZYME OF ORNITHINE TRANSCARBAMYLASE

Ichiro Matsuda, Shinichiro Arashima, Haruo Nambu, Yasuo Takekoshi, Michiya Anakura

Abstract

In a case of congenital hyperammonemia described in an 8½-month-old girl, elevated blood ammonia was shown to result from a mutant enzyme of ornithine transcarbamylase. An in vitro study indicated a decrease in affinity of the enzyme for carbamyl phosphate but not for ornithine.

About this research paper

What this paper is about

Why it matters

OpenAlex reports 48 citations for this work. Citation counts describe recorded attention and do not establish research quality.

Key contribution

A contribution statement is not available in the OpenAlex record.

Method / approach

Method details are not available in the OpenAlex metadata.

Main findings

Findings are not separately available in the OpenAlex metadata.

Limitations

Limitations are not available in the OpenAlex metadata.

Applications

Application details are not available in the OpenAlex metadata.

Available abstract

Key concepts: Hyperammonemia, Ornithine transcarbamylase, Carbamyl Phosphate, Medicine, Ornithine Carbamoyltransferase, Ornithine transcarbamylase deficiency, Enzyme, Mutant