Citrullinemia
Synonyms
ASS Deficiencies
ASS Deficiency
Argininosuccinate Synthase Deficiency Disease
Argininosuccinate Synthetase Deficiencies
Argininosuccinate Synthetase Deficiency
Argininosuccinic Acid Synthase Deficiency Disease
Argininosuccinic Acid Synthetase Deficiency
Argininosuccinic Acid Synthetase Deficiency Disease
Argininosuccinic Acid Synthetase Deficiency Disease, Partial
Argininosuccinic Acid Synthetase Deficiency, Complete
Citrullinemia 1
Citrullinemia Type 1
Citrullinemia, Classic
Citrullinemia, Classical
Citrullinemia, Late Onset
Citrullinemia, Late-Onset
Citrullinemia, Neonatal
Citrullinemia, Type I
Citrullinemias
Citrullinemias, Classic
Citrullinemias, Classical
Citrullinemias, Late-Onset
Citrullinemias, Neonatal
Citrullinuria
Citrullinurias
Classic Citrullinemia
Classic Citrullinemias
Classical Citrullinemia
Classical Citrullinemias
Complete Argininosuccinic Acid Synthetase Deficiency Disease
Deficiencies, ASS
Deficiencies, Argininosuccinate Synthetase
Deficiency Disease, Argininosuccinate Synthase
Deficiency Disease, Argininosuccinic Acid Synthase
Deficiency, ASS
Deficiency, Argininosuccinate Synthetase
Deficiency, Argininosuccinic Acid Synthetase, Complete
Deficiency, Argininosuccinic Acid Synthetase, Partial
Late-Onset Citrullinemia
Late-Onset Citrullinemias
Neonatal Citrullinemia
Neonatal Citrullinemias
Partial Argininosuccinic Acid Synthetase Deficiency Disease
Type 1, Citrullinemia
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)
See Also