Citrullinemia

**Definition:** A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)

**Tree numbers:** - C10.228.140.163.100.937.374 - C16.320.565.100.940.374 - C16.320.565.189.937.374 - C18.452.132.100.937.374 - C18.452.648.100.940.374 - C18.452.648.189.937.374

**Synonyms:** - ASS Deficiency - Citrullinuria - Deficiency Disease, Argininosuccinate Synthase - Deficiency Disease, Argininosuccinic Acid Synthase - Argininosuccinic Acid Synthetase Deficiency Disease - Argininosuccinate Synthetase Deficiency - Argininosuccinic Acid Synthase Deficiency Disease - Argininosuccinic Acid Synthetase Deficiency - Argininosuccinate Synthase Deficiency Disease