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)
推出的年份: 2000
树号: 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
MeSH 单一 ID: D020159
进入的组:
Citrullinemias
ASS Deficiency
ASS Deficiencies
Deficiency, ASS
Citrullinuria
Citrullinurias
Argininosuccinic Acid Synthetase Deficiency
Deficiency Disease, Argininosuccinic Acid Synthase
Argininosuccinate Synthase Deficiency Disease
Argininosuccinate Synthetase Deficiency
Argininosuccinate Synthetase Deficiencies
Deficiencies, Argininosuccinate Synthetase
Deficiency, Argininosuccinate Synthetase
Argininosuccinic Acid Synthase Deficiency Disease
Argininosuccinic Acid Synthetase Deficiency Disease
Deficiency Disease, Argininosuccinate Synthase
Argininosuccinic Acid Synthetase Deficiency Disease, Partial
Deficiency, Argininosuccinic Acid Synthetase, Partial
Partial Argininosuccinic Acid Synthetase Deficiency Disease
Citrullinemia, Late-Onset
Citrullinemia, Late Onset
Late-Onset Citrullinemia
Late-Onset Citrullinemias
Citrullinemia 1
Citrullinemia, Classical
Classical Citrullinemia
Classical Citrullinemias
Citrullinemia, Type I
Type I Citrullinemia
Type I Citrullinemias
Citrullinemia Type 1
Citrullinemia, Classic
Citrullinemias, Classic
Classic Citrullinemia
Classic Citrullinemias
Argininosuccinic Acid Synthetase Deficiency, Complete
Citrullinemia, Neonatal
Neonatal Citrullinemia
Neonatal Citrullinemias
Complete Argininosuccinic Acid Synthetase Deficiency Disease
Deficiency, Argininosuccinic Acid Synthetase, Complete
早前的内容:
Amino Acid Metabolism, Inborn Errors (1965-1999)
Argininosuccinate Synthase/deficiency (1975-1999)
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