Citrullinemia is an autosomal recessive urea cycle disorder (UCD) caused by a deficiency of the cytoplasmic enzyme argininosuccinate synthetase (ASS) that results in an accumulation of citrulline, the substrate of the enzyme, and ammonia as in all UCD.
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Fiermonte G et al. (2008) An adult with type 2 citrullinemia presenting in Europe. |
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Orphanet article Orphanet ID 247585 |
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OMIM.ORG article Omim 603471 |