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.
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| http://dx.doi.org/10.3390/brainsci12020231 | DOI Listing |
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Article Synopsis
- Non-hepatic causes of hyperammonaemia are rare, but a case was reported in an adolescent female with severe aplastic anaemia who developed this condition during treatment.
- She required both intermittent haemodialysis and high-volume continuous veno-venous haemodiafiltration (CVVHDF) to manage the hyperammonaemia, which could not be linked to liver, metabolic, or genetic issues.
- Ultimately, her hyperammonaemia resolved after surgical resection of her inflamed colon, emphasizing the potential of CVVHDF in treating severe cases of hyperammonaemia not related to liver dysfunction.
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