Hyperammonaemic Encephalopathy Caused by Adult-Onset Ornithine Transcarbamylase Deficiency

Brain Sciences

卷:12

Maria Therese Schelde-Olesen¹  Mads Astvad²  Anders Løkke³  Bjarke Hammer Niclasen⁴  Thomas Krøigård⁴  Helle H. Nielsen⁴ 

[1] Department of Clinical Genetics, Odense University Hospital, J.B. Winsloewsvej 4, 5000 Odense, Denmark;

[2] Department of Intensive Care, Odense University Hospital, J.B. Winsloewsvej 4, 5000 Odense, Denmark;

[3] Department of Medicine, Little Belt Hospital, 7100 Vejle, Denmark;

[4] Department of Neurology, Odense University Hospital, J.B. Winsloewsvej 4, 5000 Odense, Denmark;

关键词: subacute encephalopathy;    hyperammonaemia;    ornithine transcarbamylase deficiency;    adult onset;    brain oedema;   

DOI  :  10.3390/brainsci12020231

来源: DOAJ

【 摘 要 】

Hyperammonaemic encephalopathy in adults is a rare condition in the absence of liver disease and is associated with a high mortality and risk of permanent neurological deficits. Seldomly, the condition is caused by an inborn error of metabolism in the urea cycle, triggered by an exogenic factor such as gastrointestinal haemorrhage, gastric bypass surgery, starvation, seizures, vigorous exercise, burn injuries, or drugs hampering the elimination of ammonia. Here, we present a fatal case of an unrecognized genetic ornithine transcarbamylase deficiency (OTCD) presenting with a subacute progressive encephalopathy. We review the current literature and discuss the differential diagnosis and treatment options. As swift diagnosis and initiation of treatment is vital, awareness of hyperammonaemic encephalopathy and its possible causes can help improve the prognosis of this condition.

【 授权许可】

Unknown