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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn > Hyperargininemia
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn > Hyperargininemia
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn > Hyperargininemia
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn > Hyperargininemia
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Urea Cycle Disorders, Inborn > Hyperargininemia
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Urea Cycle Disorders, Inborn > Hyperargininemia

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Hyperargininemia  

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Tipo

  • mesh:Descriptor

Definición

  • A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)

Concepto genérico

Conceptos relacionados

Etiquetas alternativas

  • ARG1 Deficiency
  • Arginase Deficiency
  • Arginase Deficiency Disease
  • Argininemia
  • Deficiency Disease, Arginase

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-WTHVK5XM-Z

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