En grupp sjukdomstillstånd som hänger samman med brist på enzymet argininosuccinatsyntas, vilken leder till förhöjd serumnivå av citrullin. Hos nyfödda är de kliniska yttringarna letargi, lågt blodtry ck och kramper. Lindrigare former förekommer också. Hos barn och vuxna kan tillståndet yttra sig som återkommande perioder av svaghet, leetargi, ataxi, beteendeförändringar och dysartri.
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)
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Citrullinemias — ASS Deficiency — ASS Deficiencies — Deficiency, ASS — Citrullinuria — Citrullinurias — Argininosuccinic Acid Synthetase Deficiency — Deficiency Disease, Argininosuccinic Acid Synthase — Argininosuccinate Synthase Deficiency Disease — Argininosuccinate Synthetase Deficiency — Argininosuccinate Synthetase Deficiencies — Deficiencies, Argininosuccinate Synthetase — Deficiency, Argininosuccinate Synthetase — Argininosuccinic Acid Synthase Deficiency Disease — Argininosuccinic Acid Synthetase Deficiency Disease — Deficiency Disease, Argininosuccinate Synthase — Argininosuccinic Acid Synthetase Deficiency Disease, Partial — Deficiency, Argininosuccinic Acid Synthetase, Partial — Partial Argininosuccinic Acid Synthetase Deficiency Disease — Citrullinemia, Late-Onset — Citrullinemia, Late Onset — Late-Onset Citrullinemia — Late-Onset Citrullinemias — Citrullinemia 1 — Citrullinemia, Classical — Classical Citrullinemia — Classical Citrullinemias — Citrullinemia, Type I — Type I Citrullinemia — Type I Citrullinemias — Citrullinemia Type 1 — Citrullinemia, Classic — Citrullinemias, Classic — Classic Citrullinemia — Classic Citrullinemias — Argininosuccinic Acid Synthetase Deficiency, Complete — Citrullinemia, Neonatal — Neonatal Citrullinemia — Neonatal Citrullinemias — Complete Argininosuccinic Acid Synthetase Deficiency Disease — Deficiency, Argininosuccinic Acid Synthetase, Complete