Citrullinemia
180
relevant articles (4 outcomes,
5 trials/studies)
found for this Disease
Description:
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)
Also Known As:
Argininosuccinic Acid Synthase Deficiency Disease; Argininosuccinic Acid Synthetase Deficiency Disease; Argininosuccinic Acid Synthetase Deficiency Disease, Partial; Argininosuccinic Acid Synthetase Deficiency, Complete; Citrullinemia, Classical; Citrullinemia, Late-Onset; Citrullinemia, Neonatal; Citrullinuria; Complete Argininosuccinic Acid Synthetase Deficiency Disease; Deficiency Disease, Argininosuccinate Synthase; Deficiency Disease, Argininosuccinic Acid Synthase; Deficiency, Argininosuccinic Acid Synthetase, Complete; Deficiency, Argininosuccinic Acid Synthetase, Partial; Partial Argininosuccinic Acid Synthetase Deficiency Disease; Citrullinemia, Late Onset; Citrullinemias; Citrullinemias, Classical; Citrullinemias, Late-Onset; Citrullinemias, Neonatal; Citrullinurias; Classical Citrullinemia; Classical Citrullinemias; Late-Onset Citrullinemia; Late-Onset Citrullinemias; Neonatal Citrullinemia; Neonatal Citrullinemias; Argininosuccinate Synthase Deficiency Disease
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Disease Context: Research Results