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

Preferred term

Citrullinemia  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Argininosuccinate Synthase Deficiency Disease
  • Argininosuccinate Synthetase Deficiencies
  • Argininosuccinate Synthetase Deficiency
  • Argininosuccinic Acid Synthase Deficiency Disease
  • Argininosuccinic Acid Synthetase Deficiency
  • Argininosuccinic Acid Synthetase Deficiency Disease
  • ASS Deficiencies
  • ASS Deficiency
  • Citrullinuria
  • Citrullinurias
  • Deficiencies, Argininosuccinate Synthetase
  • Deficiency, Argininosuccinate Synthetase
  • Deficiency, ASS
  • Deficiency Disease, Argininosuccinate Synthase
  • Deficiency Disease, Argininosuccinic Acid Synthase

Scope note

  • 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)

History note

  • 2000

In other languages

URI

http://www.yso.fi/onto/mesh/D020159

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