Citrullinemia

Citrullinemi

Svensk definition

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.

Engelsk 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)

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

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