Citrullinemia   252

General: Autosomal recessive; enzyme deficiency called argininosuccinic acid synthetase; mutations causing human citrullinemia are extremely heterogeneous; nonconsanguineous persons studied until 1991 had been found to be compound heterozygotes.

Ocular: Hypotonicity; low intraocular pressure; irregular choroidal and retinal pigment epithelium folding; engorged retinal vessels; pallor of optic disk.

Clinical: Mental retardation; nausea; vomiting; tremors; intermittent hyperammonemia.

Kobayashi K, et al. Additional mutations in argininosuccinate synthetase causing citrullinemia. Mol Biol Med 1991; 8:95-l00.

Matsuda I, et al. Variant form of citrullinemia. J Pediatr 1985; 88:995-l006.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.