Valproate-induced fatal acute hyperammonaemia-related encephalopathy in late-onset ornithine transcarbamylase deficiency

Ornithine transcarbamylase (OTC) deficiency is a genetic disorder of the urea cycle characterised by deficiency in the enzyme OTC, resulting in an accumulation of ammonia. Valproic acid (VPA), a commonly used medication in the treatment of neurologic and psychiatric conditions, has been known to cau...

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Bibliographic Details
Published in:BMJ case reports 2021-05, Vol.14 (5), p.e241429
Main Authors: Kazmierski, Daniel, Sharma, Nishant, O'Leary, Kelly, Ochieng, Pius
Format: Article
Language:English
Subjects:
Adult
Ammonia
Brain Diseases - chemically induced
Case Report
Case reports
Creatinine
Edema
Enzymes
Hemodialysis
Humans
Hyperammonemia - chemically induced
Infections
Intellectual disabilities
Male
Metabolism
Ornithine Carbamoyltransferase Deficiency Disease - complications
Ornithine Carbamoyltransferase Deficiency Disease - diagnosis
Patients
Proteins
Psychosis
Schizophrenia
Seizures
Urine
Valproic Acid - adverse effects
Vital signs
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Summary:Ornithine transcarbamylase (OTC) deficiency is a genetic disorder of the urea cycle characterised by deficiency in the enzyme OTC, resulting in an accumulation of ammonia. Valproic acid (VPA), a commonly used medication in the treatment of neurologic and psychiatric conditions, has been known to cause episodes of acute hyperammonaemia in patients with OTC deficiency. We present the case of a 29-year-old man with a long history of non-specific psychiatric disorders, who suffered from a hyperammonaemic crisis following the administration of VPA, leading to the diagnosis of OTC deficiency. The patient’s hospital course was complicated by progressive cerebral oedema, which resulted in worsening encephalopathy, seizures and death. We discuss the pathophysiology of hyperammonaemia in OTC deficiency, and various management strategies, including lactulose, levocarnitine, scavenger therapy and haemodialysis.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2020-241429