U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Citrullinemia

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)

Year introduced: 2000

PubMed search builder options

Subheadings:

Tree Number(s): C10.228.140.163.100.937.374, C16.320.565.100.940.374, C16.320.565.189.937.374, C18.452.132.100.937.374, C18.452.648.100.940.374, C18.452.648.189.937.374

MeSH Unique ID: D020159

Entry Terms:

  • Citrullinemias
  • ASS Deficiency
  • ASS Deficiencies
  • Deficiency, ASS
  • Citrullinuria
  • Citrullinurias
  • Deficiency Disease, Argininosuccinate Synthase
  • Deficiency Disease, Argininosuccinic Acid Synthase
  • Argininosuccinic Acid Synthetase Deficiency Disease
  • Argininosuccinate Synthetase Deficiency
  • Argininosuccinate Synthetase Deficiencies
  • Deficiencies, Argininosuccinate Synthetase
  • Deficiency, Argininosuccinate Synthetase
  • Argininosuccinic Acid Synthase Deficiency Disease
  • Argininosuccinic Acid Synthetase Deficiency
  • Argininosuccinate Synthase Deficiency Disease
  • Argininosuccinic Acid Synthetase Deficiency Disease, Partial
  • Citrullinemia, Late-Onset
  • Citrullinemia, Late Onset
  • Late-Onset Citrullinemia
  • Late-Onset Citrullinemias
  • Deficiency, Argininosuccinic Acid Synthetase, Partial
  • Partial Argininosuccinic Acid Synthetase Deficiency Disease
  • Argininosuccinic Acid Synthetase Deficiency, Complete
  • Complete Argininosuccinic Acid Synthetase Deficiency Disease
  • Deficiency, Argininosuccinic Acid Synthetase, Complete
  • Citrullinemia, Neonatal
  • Neonatal Citrullinemia
  • Neonatal Citrullinemias
  • Citrullinemia 1
  • Citrullinemia Type 1
  • Citrullinemia, Classic
  • Citrullinemias, Classic
  • Classic Citrullinemia
  • Classic Citrullinemias
  • Citrullinemia, Type I
  • Type I Citrullinemia
  • Type I Citrullinemias
  • Citrullinemia, Classical
  • Classical Citrullinemia
  • Classical Citrullinemias

Previous Indexing:

See Also:

Supplemental Content

Loading ...