Carbamoyl-Phosphate Synthase I Deficiency Disease
Definition: A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
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Nutritional and Metabolic Diseases > Metabolic Diseases > Mitochondrial Diseases > Carbamoyl-Phosphate Synthase I Deficiency Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Carbamoyl-Phosphate Synthase I Deficiency Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Carbamoyl-Phosphate Synthase I Deficiency Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Carbamoyl-Phosphate Synthase I Deficiency Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Carbamoyl-Phosphate Synthase I Deficiency Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Carbamoyl-Phosphate Synthase I Deficiency Disease
Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Carbamoyl-Phosphate Synthase I Deficiency Disease
Albinism | Alkaptonuria | Cerebral Amyloid Angiopathy, Familial | Citrullinemia | Cytochrome-c Oxidase Deficiency | Friedreich Ataxia | Galactosemias | Hartnup Disease | Hepatolenticular Degeneration | Homocystinuria | Hyperargininemia | Hyperglycinemia, Nonketotic | Hyperhomocysteinemia | Hyperlysinemias | Leigh Disease | Lesch-Nyhan Syndrome | Lysosomal Storage Diseases, Nervous System | MELAS Syndrome | MERRF Syndrome | Maple Syrup Urine Disease | Menkes Kinky Hair Syndrome | Mitochondrial Myopathies | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | Multiple Carboxylase Deficiency | Oculocerebrorenal Syndrome | Optic Atrophy, Autosomal Dominant | Optic Atrophy, Hereditary, Leber | Ornithine Carbamoyltransferase Deficiency Disease | Peroxisomal Disorders | Phenylketonurias | Pyruvate Carboxylase Deficiency Disease | Pyruvate Dehydrogenase Complex Deficiency Disease | Tyrosinemias
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