FIGURE 4 | Urea-cycle disorders, small-molecule diseases.
From the following article:
Inborn errors of metabolism: the flux from Mendelian to complex diseases
Brendan Lanpher, Nicola Brunetti-Pierri & Brendan Lee
Nature Reviews Genetics 7, 449-459 (June 2006)
doi:10.1038/nrg1880
The urea cycle consists of a group of enzymes that generate urea from nitrogen that is donated from ammonia and aspartate. Embedded within the urea cycle is the arginine–citrulline cycle, which produces nitric oxide. Disease-causing mutations have been identified in all enzymes and transporters shown here. The most common urea-cycle disorder is ornithine transcarbamylase deficiency (OTCD, OMIM 311250). The other urea-cycle disorders are deficiencies of N-acetyl glutamate synthetase (NAGS, OMIM 237310), carbamyl phosphate synthetase (CPS, OMIM 237300), argininosuccinic acid synthetase (ASS, OMIM 215700), argininosuccinic acid lyase (ASL, OMIM 207900, also known as argininosuccinic aciduria (ASA)), and arginase I (ARG1, OMIM 207800). AGC, aspartate-glutamate carrier (citrin); NOS, nitric-oxide synthase; ORNT1, ornithine translocase-1.
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