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Hyperammoniæmisk encefalopati hos voksne leverraske

Forfatter(e)

Thomas Kromann Nøhr1, Peter Lykke Eriksen1, Allan Lund2, Hendrik Vilstrup1 & Karen Louise Thomsen1

1) Lever-, Mave- og Tarmsygdomme, Aarhus Universitetshospital, 2) Center for Medfødte Stofskiftesygdomme, Københavns Universitetshospital – Rigshospitalet

Ugeskr Læger 2021;183:V11200825

Reference: 
UgeskrLæger 2021;183:V11200825
Hyperammonaemic encephalopathy in adults without liver diseases

Hyperammonaemic encephalopathy (HAE) in adults in the absence of acute or chronic liver disease is a severe condition caused by inborn errors of metabolism or acquired conditions like bariatric surgery, medications or malignancy as summarised in this review. Metabolic defects are most often caused by partial defects in the urea cycle enzymes demasked by stressors, whereas mechanisms underlying the acquired causes are complex and often multifactorial. Awareness of HAE and knowledge of the causes can help the clinician to deal appropriately with patients presenting with symptoms suggesting HAE and no signs of liver disease.

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