Table:
text: Urea cycle disorder
The six urea cycle disorders
The six urea cycle disorders
Location_ Abb_ Enzyme Disorder Measurements
Mitochondria NAGS N-Acetylglutamate synthetase N-Acetylglutamate synthase deficiency + Ammonia
Mitochondria CPS1 Carbamoyl phosphate synthetase I Carbamoyl phosphate synthetase I deficiency + Ammonia
Mitochondria OTC Ornithine transcarbamylase Ornithine transcarbamylase deficiency + Ornithine , + Uracil , + Orotic acid
Cytosol ASS Argininosuccinic acid synthetase AS deficiency or citrullinemia + Citrulline
Cytosol ASL Argininosuccinase acid lyase AL deficiency or argininosuccinic aciduria (ASA) + Citrulline , + Argininosuccinic acid
Cytosol ARG Arginase Arginase deficiency or argininemia + Arginine

Question: Which enzyme is involved in disrupting the urea cycle in ornithine transcarbamylase deficiency?

Question: Which laboratory measurements can help to diagnose an ornithine transcarbamylase deficiency in the case of a disorder of the urea cycle?

Question: What is the abbreviation of the enzyme involved in carbamoyl phosphate synthetase I deficiency due to urea cycle dysfunction?