Fatal Encephalopathy Caused by a Urea Cycle Disorder

Park, Soo Hyun; Lee, Jung Hwan; Choi, Seok Jin; Kim, Hee Sup; Kim, Nam Hee

doi:10.3988/jcn.2021.17.2.325

Cited by 3 publications

(2 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A review of the literature found 23 cases of adult-onset OTC deficiency [8][9][10][11][12][13]. Of these cases, only two occurred postoperatively after a renal transplant or liver transplant [14,15].…”

Section: Otc: Ornithine Transcarbamylasementioning

confidence: 99%

Ornithine Transcarbamylase Deficiency Presenting as Acute Encephalopathy After Strabismus Surgery

Lung¹,

Sathappan²,

Sabir³

et al. 2022

Cureus

View full text Add to dashboard Cite

Acute encephalopathy with an unclear etiology is a common presentation to the hospital. We describe the case of a 50-year-old male who presented with a one-day history of slurred speech, nausea, insomnia, and altered mental status. His surgical history was notable for a strabismus surgery two days ago. He presented with elevated ammonia levels that continued to increase. Metabolic studies were suggestive of hyperammonemia secondary to ornithine transcarbamylase (OTC) deficiency triggered due to fasting prior to the strabismus surgery. OTC gene sequencing confirmed the diagnosis of OTC deficiency. We summarize the current case reports in the literature and review the treatment options for OTC deficiency. Our case occurred after a low-risk outpatient strabismus surgery and is a good example of maintaining a broad differential and revising the suspected diagnosis constantly.

show abstract

Section: Otc: Ornithine Transcarbamylasementioning

confidence: 99%

Ornithine Transcarbamylase Deficiency Presenting as Acute Encephalopathy After Strabismus Surgery

Lung¹,

Sathappan²,

Sabir³

et al. 2022

Cureus

View full text Add to dashboard Cite

show abstract

“…Nonhepatic causes of hyperammonaemia are much less common [5] but include medications (especially valproate toxicity), urinary tract infection with ureasplitting organisms, and inborn errors of metabolism such as urea cycle disorders. Although these latter causes are responsible for less than 5% of hyperammonemia in the ICU, failure to recognize and treat can be fatal [6,7].…”

Section: Introductionmentioning

confidence: 99%

Ammonia and nutritional therapy in the critically ill: when to worry, when to test and how to treat?

Redant

Warrillow

Honoré

2023

Current Opinion in Clinical Nutrition &Amp; Metabolic Care

View full text Add to dashboard Cite

Purpose of reviewHyperammonaemia is almost always develops in patients with severe liver failure and this remains the commonest cause of elevated ammonia concentrations in the ICU. Nonhepatic hyperammonaemia in ICU presents diagnostic and management challenges for treating clinicians. Nutritional and metabolic factors play an important role in the cause and management of these complex disorders.Recent findingsNonhepatic hyperammonaemia causes such as drugs, infection and inborn errors of metabolism may be unfamiliar to clinicians and risk being overlooked. Although cirrhotic patients may tolerate marked elevations in ammonia, other causes of acute severe hyperammonaemia may result in fatal cerebral oedema. Any coma of unclear cause should prompt urgent measurement of ammonia and severe elevations warrant immediate protective measures as well as treatments such as renal replacement therapy to avoid life-threatening neurological injury.SummaryThe current review explores important clinical considerations, the approach to testing and key treatment principles that may prevent progressive neurological damage and improve outcomes for patients with hyperammonaemia, especially from nonhepatic causes.

show abstract

Toxic leukoencephalopathies

Bandeira,

Lucato

2024

Handbook of Clinical Neurology

View full text Add to dashboard Cite

Fatal Encephalopathy Caused by a Urea Cycle Disorder

Cited by 3 publications

References 4 publications

Ornithine Transcarbamylase Deficiency Presenting as Acute Encephalopathy After Strabismus Surgery

Ornithine Transcarbamylase Deficiency Presenting as Acute Encephalopathy After Strabismus Surgery

Ammonia and nutritional therapy in the critically ill: when to worry, when to test and how to treat?

Toxic leukoencephalopathies

Contact Info

Product

Resources

About