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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > 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 > 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
... > 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 > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn > Hyperargininemia

Preferred term

Hyperargininemia  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • ARG1 Deficiencies
  • ARG1 Deficiency
  • Arginase Deficiencies
  • Arginase Deficiency
  • Arginase Deficiency Disease
  • Arginase Deficiency Diseases
  • Argininemia
  • Deficiencies, ARG1
  • Deficiencies, Arginase
  • Deficiency, ARG1
  • Deficiency, Arginase
  • Deficiency Disease, Arginase
  • Deficiency Diseases, Arginase

Scope note

  • 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)

History note

  • 2000

In other languages

URI

http://www.yso.fi/onto/mesh/D020162

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