Argininemia

📋Overview

This disorder, also known as arginase deficiency, is classified as a urea cycle disorder and occurs when the arginase enzyme is missing or malfunctioning. This enzyme is essential for the final step of the urea cycle, a process in the liver that converts nitrogen waste into urea for excretion.

When this biochemical process is impaired, arginine and ammonia may accumulate in the bloodstream. While arginine levels typically rise significantly, ammonia levels are often less severely elevated compared to other urea cycle disorders.