Urea Cycle Disorder - The Six Urea Cycle Disorders

The Six Urea Cycle Disorders

There are six disorders of the urea cycle. Each is referred to by the initials of the missing enzyme.

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

Individuals with childhood or adult onset disease may have a partial enzyme deficiency. All of these disorders are transmitted genetically as autosomal recessive genes - each parent contributes a defective gene to the child, except for one of the defects, Ornithine Transcarbamylase Deficiency. This urea cycle disorder is acquired in one of three ways: as an X-linked trait from the mother, who may be an undiagnosed carrier; in some cases of female children, the disorder can also be inherited from the father's X-chromosome; and finally, OTC deficiency may be acquired as a "new" mutation occurring in the fetus uniquely. Recent research has shown that some female carriers of the disease may become symptomatic with the disorder later in life, suffering high ammonia levels. Several undiagnosed women have died during childbirth as a result of high ammonia levels and on autopsy were determined to have been unknown carriers of the disorder.

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