Citrullinemia (definition)

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Citrullinemia

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Definition: 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)

See Also Argininosuccinate Synthase

Other names Type 1, Citrullinemia; Neonatal Citrullinemias; Neonatal Citrullinemia; Late-Onset Citrullinemias; Late-Onset Citrullinemia; Deficiency, Argininosuccinate Synthetase; Deficiency, ASS; Deficiencies, Argininosuccinate Synthetase; Deficiencies, ASS; Classical Citrullinemias; Classical Citrullinemia; Classic Citrullinemias; Classic Citrullinemia; Citrullinurias; Citrullinemias, Neonatal; Citrullinemias, Late-Onset; Citrullinemias, Classical; Citrullinemias, Classic; Citrullinemias; Citrullinemia, Late Onset

Substance	CAS Registry & name	Categories	Source
CTNL1	0	*Citrullinemia.
Adult-onset citrullinemia type 2	0	*Citrullinemia.
Neonatal-onset citrullinemia type 2	0	*Citrullinemia.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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