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 .
C11 Eye Diseases .
C11.270 Eye Diseases, Hereditary .
C11.270.468 Gyrate Atrophy .
C11.941 Uveal Diseases .
C11.941.160 Choroid Diseases .
C11.941.160.578 Gyrate Atrophy .
C13 Female Urogenital Diseases and Pregnancy Complications .
C13.703 Pregnancy Complications .
C13.703.277 Fetal Diseases .
C13.703.277.390 Fetal Hypoxia .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.300 Fetal Diseases .
C16.300.420 Fetal Hypoxia .
C16.320 Genetic Diseases, Inborn .
C16.320.290 Eye Diseases, Hereditary .
C16.320.290.468 Gyrate Atrophy .
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 .
C23 Pathological Conditions, Signs and Symptoms .
C23.888 Signs and Symptoms .
C23.888.852 Signs and Symptoms, Respiratory .
C23.888.852.079 Hypoxia .
C23.888.852.079.594 Fetal Hypoxia .
D01 Inorganic Chemicals .
D01.268 Elements .
D01.268.185 Chalcogens .
D01.268.185.550 Oxygen .
D01.362 Gases .
D01.362.670 Oxygen .
SP4 Environmental Health .
SP4.011 Science .
SP4.011.097 Chemistry .
SP4.011.097.063 Elements .
SP4.011.097.063.949 Oxygen .
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) . 0.61