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Citrullinemia

Known as: Citrullinemias, Classic, Deficiency Disease, Argininosuccinic Acid Synthase, Deficiency, ASS 
A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In… 
National Institutes of Health

Related topics

Related topics

30 relations
ARGININOSUCCINATE SYNTHASEASS1 geneASS1, ARG157HISAlkalosis, Respiratory

Narrower (3)

Adult-onset citrullinemia type 2CITRULLINEMIA, TYPE II, NEONATAL-ONSETCTNL1

Broader (1)

Enzyme Deficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2008
2008
AsS melt under pressure: one substance, three liquids.
An in situ high-temperature--high-pressure study of liquid chalcogenide AsS by x-ray diffraction, resistivity measurements, and… 
2004
2004
Clearance of amino acids by hemodialysis in argininosuccinate synthetase deficiency.
Review
2002
Review
2002
Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry.
  • T. Kuhara
  • Journal of chromatography. B, Analytical…
  • 2002
  • Corpus ID: 1014398
2001
2001
Separation of free amino acids in human plasma by capillary electrophoresis with laser induced fluorescence: potential for emergency diagnosis of inborn errors of metabolism.
1996
1996
Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation.
Type II citrullinemia is an adult-onset hepatocerebral disease caused by a deficiency of argininosuccinate synthetase in liver. A… 
1992
1992
Investigation of urea cycle enzyme disorders by 1H-NMR spectroscopy.
1989
1989
Peritoneal Dialysis in the Treatment of Metabolic Crises Caused by Inherited Disorders of Organic and Amino Acid Metabolism
ABSTRACT. Four neonates who presented with coma secondary to hyperammonaemia resulting in central respiratory failure were… 
1975
1975
Citrullinemia: Enzymatic Evidence for Genetic Heterogeneity
Extract: The specific activity of argininosuccinate synthetase (micromoles of 14CO2 per milligram of protein per hour) was 0… 
1973
1973
Citrullinemia, Report of a Case, with Studies on Antenatal Diagnosis
Extract: A case is described of an infant with a deficiency of liver argininosuccinate synthetase, characterized by rapidly… 
1969
1969
Periodic attacks of lethargy in a baby with ammonia intoxication due to a congenital defect in ureogenesis.
Hyperammonaemia due to a deficient urea cycle (Fig. 1) has been attributed to at least four distinct enzyme defects: (1… 
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