Display Documents Help
vše 1
diagnóza 1
MeSH Descriptor
Source: MeSH 2021 deskriptory
Main Heading
argininsukcinátová acidurie
English Heading
Argininosuccinic Aciduria
See
argininjantarová acidurie
argininsukcinátlyasa - deficience
argininsukcináturie
See
Arginino Succinase Deficiency [T734489]
Inborn Error of Urea Synthesis, Arginino Succinic Type [T734490]
ASL Deficiency [T734493]
ASA Deficiency [T734494]
Argininosuccinicaciduria [T734495]
Argininosuccinate Acidemia [T734496]
Argininosuccinic Acid Lyase Deficiency [T734497]
Argininosuccinate Lyase Deficiency [T734498]
Urea Cycle Disorder, Arginino Succinase Type [T734499]
Argininosuccinase Deficiency [T812234]
Argininosuccinic Acidemia [T840916]
Argininosuccinyl-Coa Lyase Deficiency [T840917]
Arginosuccinase Deficiency [T840918]
Asauria [T840919]
Related Descriptors
Preferred Concept
Mesh Scope Translators Note
Vrozená porucha metabolismu argininu s autozomálně recesivní dědičností (chromozom 7p) v důsledku deficience argininsukcinátlyázy. Vada se projeví větš. záhy po narození těžkou hyperamonemií. Mortalita je vysoká. Mírnější formy se projeví psychomotorickou retardací s epizodami zvracení, hepatosplenomegalií. V plasmě, v moči a v likvoru je vysoká hladina argininjantarové kyseliny. Prognóza je nepříznivá i u mírnějších forem onemocnění. (cit. Velký lékařský slovník online, 2018 http://lekarske.slovniky.cz)
Scope Note
Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.
History note
2010
Public Note
2010
Record number
D056807
Persistent link
MeSH Tree


MeSH Tree


MeSH Tree


MeSH Tree


MeSH Tree


MeSH Tree


Browse Medical Subject Headings
top  Help


Display format