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 .
C10.228.140.163.100.937.750 Ornithine Carbamoyltransferase Deficiency Disease .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.322 Genetic Diseases, X-Linked .
C16.320.322.828 Ornithine Carbamoyltransferase Deficiency Disease .
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 .
C16.320.565.100.940.750 Ornithine Carbamoyltransferase Deficiency Disease .
C16.320.565.189 Brain Diseases, Metabolic, Inborn .
C16.320.565.189.937 Urea Cycle Disorders, Inborn .
C16.320.565.189.937.374 Citrullinemia .
C16.320.565.189.937.750 Ornithine Carbamoyltransferase Deficiency Disease .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.132 Brain Diseases, Metabolic .
C18.452.132.100 Brain Diseases, Metabolic, Inborn .
C18.4184.108.40.2067 Urea Cycle Disorders, Inborn .
C18.4220.127.116.117.374 Citrullinemia .
C18.418.104.22.1687.500 Ornithine Carbamoyltransferase Deficiency Disease .
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 .
C18.452.648.100.940.500 Ornithine Carbamoyltransferase Deficiency Disease .
C18.452.648.189 Brain Diseases, Metabolic, Inborn .
C18.452.648.189.937 Urea Cycle Disorders, Inborn .
C18.452.648.189.937.374 Citrullinemia .
C18.452.648.189.937.500 Ornithine Carbamoyltransferase Deficiency Disease .
C18.654 Nutrition Disorders .
C18.654.521 Malnutrition .
C18.654.521.500 Deficiency Diseases .
C18.654.521.500.708 Protein Deficiency .
C23 Pathological Conditions, Signs and Symptoms .
C23.888 Signs and Symptoms .
C23.888.852 Signs and Symptoms, Respiratory .
C23.888.852.079 Hypoxia .
SP6 Nutrition, Public Health .
SP6.016 Nutrition Disorders .
SP6.016.052 Deficiency Diseases .
SP6.016.052.058 Malnutrition .
SP6.016.052.058.089 Protein Deficiency .
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) . 0.66
Ornithine Carbamoyltransferase Deficiency Disease . Deficiency Disease, Ornithine Carbamoyltransferase . Deficiency Disease, Ornithine Transcarbamylase . Ornithine Carbamoyltransferase Deficiency . Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To . Deficiencies, OTC . Deficiencies, Ornithine Transcarbamylase . Deficiency, OTC . Deficiency, Ornithine Transcarbamylase . OTC Deficiencies . Ornithine Transcarbamylase Deficiencies . Ornithine Transcarbamylase Deficiency Disease . Ornithine Transcarbamylase Deficiency . OTC Deficiency . An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50) . 0.64
Protein Deficiency . Deficiency, Protein . Deficiencies, Protein . Protein Deficiencies . Protein Malnutrition . A nutritional condition produced by a deficiency of proteins in the diet, characterized by adaptive enzyme changes in the liver, increase in amino acid synthetases, and diminution of urea formation, thus conserving nitrogen and reducing its loss in the urine. Growth, immune response, repair, and production of enzymes and hormones are all impaired in severe protein deficiency. Protein deficiency may also arise in the face of adequate protein intake if the protein is of poor quality (i.e., the content of one or more amino acids is inadequate and thus becomes the limiting factor in protein utilization). (From Merck Manual, 16th ed; Harrison's Principles of Internal Medicine, 12th ed, p406) . 0.63