Citrullinemia
MESHD020159
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)
Synonyms
- Citrullinemias
- ASS Deficiency
- ASS Deficiencies
- Deficiency, ASS
- Citrullinuria
- Citrullinurias
- Deficiency Disease, Argininosuccinate Synthase
- Deficiency Disease, Argininosuccinic Acid Synthase
- Argininosuccinic Acid Synthetase Deficiency Disease
- Argininosuccinate Synthetase Deficiency
- Argininosuccinate Synthetase Deficiencies
- Deficiencies, Argininosuccinate Synthetase
- Deficiency, Argininosuccinate Synthetase
- Argininosuccinic Acid Synthase Deficiency Disease
- Argininosuccinic Acid Synthetase Deficiency
- Argininosuccinate Synthase Deficiency Disease
- Argininosuccinic Acid Synthetase Deficiency Disease, Partial
- Citrullinemia, Late-Onset
- Citrullinemia, Late Onset
- Late-Onset Citrullinemia
- Late-Onset Citrullinemias
- Deficiency, Argininosuccinic Acid Synthetase, Partial
- Partial Argininosuccinic Acid Synthetase Deficiency Disease
- Argininosuccinic Acid Synthetase Deficiency, Complete
- Complete Argininosuccinic Acid Synthetase Deficiency Disease
- Deficiency, Argininosuccinic Acid Synthetase, Complete
- Citrullinemia, Neonatal
- Neonatal Citrullinemia
- Neonatal Citrullinemias
- Citrullinemia 1
- Citrullinemia Type 1
- Citrullinemia, Classic
- Citrullinemias, Classic
- Classic Citrullinemia
- Classic Citrullinemias
- Citrullinemia, Type I
- Type I Citrullinemia
- Type I Citrullinemias
- Citrullinemia, Classical
- Classical Citrullinemia
- Classical Citrullinemias
Source last updated 2026-05-24T15:25:36.043Z