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 DeCS Categories

C10 Nervous System Diseases .
C10.228 Central Nervous System Diseases .
C10.228.140 Brain Diseases .
C10.228.140.163 Brain Diseases, Metabolic .
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn .
C10.228.140.163.100.937 Urea Cycle Disorders, Inborn .
C10.228.140.163.100.937.374 Citrullinemia .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.100 Amino Acid Metabolism, Inborn Errors .
C16.320.565.100.940 Urea Cycle Disorders, Inborn .
C16.320.565.100.940.374 Citrullinemia .
C16.320.565.189 Brain Diseases, Metabolic, Inborn .
C16.320.565.189.937 Urea Cycle Disorders, Inborn .
C16.320.565.189.937.374 Citrullinemia .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.132 Brain Diseases, Metabolic .
C18.452.132.100 Brain Diseases, Metabolic, Inborn .
C18.452.132.100.937 Urea Cycle Disorders, Inborn .
C18.452.132.100.937.374 Citrullinemia .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.100 Amino Acid Metabolism, Inborn Errors .
C18.452.648.100.940 Urea Cycle Disorders, Inborn .
C18.452.648.100.940.374 Citrullinemia .
C18.452.648.189 Brain Diseases, Metabolic, Inborn .
C18.452.648.189.937 Urea Cycle Disorders, Inborn .
C18.452.648.189.937.374 Citrullinemia .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
Citrullinemia .
Argininosuccinic Acid Synthase Deficiency Disease .
Argininosuccinic Acid Synthetase Deficiency Disease .
Argininosuccinic Acid Synthetase Deficiency Disease, Partial .
Argininosuccinic Acid Synthetase Deficiency, Complete .
Citrullinemia, Classical .
Citrullinemia, Late-Onset .
Citrullinemia, Neonatal .
Citrullinemia, Type I .
Citrullinuria .
Complete Argininosuccinic Acid Synthetase Deficiency Disease .
Deficiency, Argininosuccinic Acid Synthetase, Complete .
Deficiency, Argininosuccinic Acid Synthetase, Partial .
Partial Argininosuccinic Acid Synthetase Deficiency Disease .
ASS Deficiencies .
Argininosuccinate Synthetase Deficiencies .
Citrullinemia, Late Onset .
Citrullinemias .
Citrullinemias, Classic .
Citrullinemias, Classical .
Citrullinemias, Late-Onset .
Citrullinemias, Neonatal .
Citrullinurias .
Classic Citrullinemia .
Classic Citrullinemias .
Classical Citrullinemia .
Classical Citrullinemias .
Deficiencies, ASS .
Deficiencies, Argininosuccinate Synthetase .
Deficiency, ASS .
Deficiency, Argininosuccinate Synthetase .
Late-Onset Citrullinemia .
Late-Onset Citrullinemias .
Neonatal Citrullinemia .
Neonatal Citrullinemias .
Type 1, Citrullinemia .
Argininosuccinate Synthase Deficiency Disease .
Argininosuccinate Synthetase Deficiency .
Argininosuccinic Acid Synthetase Deficiency .
ASS Deficiency .
Citrullinemia 1 .
Citrullinemia Type 1 .
Citrullinemia, Classic .
Deficiency Disease, Argininosuccinate Synthase .
Deficiency Disease, Argininosuccinic Acid Synthase .
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) .
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