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)

Descriptor ID	D020159
MeSH Number(s)	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
Concept/Terms	Citrullinemia Citrullinemia Citrullinemias Argininosuccinate Synthetase Deficiency Argininosuccinate Synthetase Deficiencies Deficiencies, Argininosuccinate Synthetase Deficiency, Argininosuccinate Synthetase Argininosuccinic Acid Synthase Deficiency Disease Argininosuccinic Acid Synthetase Deficiency Argininosuccinic Acid Synthetase Deficiency Disease Citrullinemia, Type I Citrullinemia 1 Citrullinemia Type 1 Type 1, Citrullinemia Citrullinemia, Classic Citrullinemias, Classic Classic Citrullinemia Classic Citrullinemias Citrullinuria Citrullinurias Deficiency Disease, Argininosuccinate Synthase Deficiency Disease, Argininosuccinic Acid Synthase Argininosuccinate Synthase Deficiency Disease ASS Deficiency ASS Deficiencies Deficiencies, ASS Deficiency, ASS Argininosuccinic Acid Synthetase Deficiency Disease, Partial Argininosuccinic Acid Synthetase Deficiency Disease, Partial Deficiency, Argininosuccinic Acid Synthetase, Partial Partial Argininosuccinic Acid Synthetase Deficiency Disease Citrullinemia, Late-Onset Citrullinemia, Late Onset Citrullinemias, Late-Onset Late-Onset Citrullinemia Late-Onset Citrullinemias Argininosuccinic Acid Synthetase Deficiency, Complete Argininosuccinic Acid Synthetase Deficiency, Complete Deficiency, Argininosuccinic Acid Synthetase, Complete Complete Argininosuccinic Acid Synthetase Deficiency Disease Citrullinemia, Classical Citrullinemias, Classical Classical Citrullinemia Classical Citrullinemias Citrullinemia, Neonatal Citrullinemias, Neonatal Neonatal Citrullinemia Neonatal Citrullinemias

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