Hyperammonemic Coma in an Adult due to Ornithine Transcarbamylase Deficiency

Roberts, Daniel L.; Galbreath, David A.; Patel, B. M.; Ingall, Timothy J.; Khatib, Amer; Johnson, Daniel J.

doi:10.1155/2013/493216

Cited by 6 publications

(7 citation statements)

References 12 publications

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“…A personal or family history of similar episodes and precipitating factors should be investigated [ 4 ]. Hyperammonemia can be triggered by high protein intake, increased protein catabolism due to infection, trauma, physical exercise or steroids, hepatic toxicity from chemotherapy and other medications, pancreatitis, or postpartum [ 5 – 8 ]. There are at least five reports of OTCD adults who developed acute hyperammonemic coma following steroid administration [ 3 , 6 , 9 – 11 ].…”

Section: Discussionmentioning

confidence: 99%

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Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration

Gascón‐Bayarri

Campdelacreu

Estela

et al. 2015

Case Reports in Neurological Medicine

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Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked disorder of urea synthesis leading to hyperammonemia. Several late-onset cases have been reported. Undiagnosed and untreated patients are at the risk of death or suffering from irreversible sequelae. We describe a 56-year-old patient who presented with acute encephalopathy after steroid treatment. Hyperammonemia due to OTCD was diagnosed and a mutation was found. This allowed us to diagnose two other family members with unexplained encephalopathy who are now asymptomatic on a low-protein diet. OTCD should be considered in any patient with hyperammonemic encephalopathy and immediate treatment should be given to avoid a fatal outcome. We emphasize the need to examine other family members if the diagnosis is confirmed, in order to prevent further life-threatening episodes of encephalopathy or neonatal coma of newborn.

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Section: Discussionmentioning

confidence: 99%

“…An increasing number of late-onset cases have been reported in adults, most of them females [ 2 , 3 ] with symptom onset coinciding with a precipitating factor [ 4 ]. However, in some cases the trigger cannot be identified [ 5 ]. Without treatment patients may die or suffer from irreversible cognitive sequelae [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration

Gascón‐Bayarri

Campdelacreu

Estela

et al. 2015

Case Reports in Neurological Medicine

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“…A liver biopsy is useful in patients with OTC deficiency and liver abnormalities. Liver steatosis was previously documented in at least four patients with late onset OTC deficiency and altered consciousness, 23,26,27 but this lesion could be detected by liver MRI even in the case of microvesicular steatosis. 10 Obtaining a liver tissue sample also enables the performance of tissular genetic studies.…”

Section: Can This Presentation Be Due To An Exceptional Cause Such Asmentioning

confidence: 96%

Peak hyperammonemia and atypical acute liver failure: The eruption of an urea cycle disorder during hyperemesis gravidarum

Weiss

Mochel

Rudler

et al. 2018

Journal of Hepatology

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Inborn urea cycle disorders are under-recognised metabolic causes of hyperammonemia in adults. A 28-year-old primigravida, seven weeks pregnant, affected by hyperemesis gravidarum developed acute liver injury (ALI) and then acute liver failure (ALF) in less than 48 h. Because the patient developed atypical features, especially mildly elevated aminotransferases contrasting with very high blood ammonia levels (281 μmol/L), concomitant with normal serum creatinine, an inborn error of metabolism was suspected. We performed emergency metabolic analyses, stopped all protein intake and started with intravenous (i.v.) high caloric intake, nitrogen scavenger drugs and haemodialysis. The neurological and hepatic status of the patient quickly improved together with normalisation of her ammonemia levels. High plasma glutamine and urinary orotic acid, alongside low plasma arginine, citrulline and ornithine were suggestive of an ornithine transcarbamylase deficiency, later confirmed by molecular analyses. Foetal sex was female, as determined by foetal DNA analysis in maternal blood, and foetal development was unremarkable throughout the pregnancy. Delivery was induced at 39 weeks with a close monitoring of ammonemia levels and i.v. perfusion of carbohydrates and lipids during labour and immediately post-partum to avoid hypercatabolism. Delivery was uneventful and the patient delivered a healthy female baby. Urea cycle disorders should be contemplated in non-jaundiced patients with ALI or ALF, severe hyperammonemia and normal serum creatinine regardless of serum aminotransferase levels. The prompt recognition of this rare condition and the rapid initiation of adequate metabolic therapy are mandatory to prevent irreversible neurological sequelae and to avoid liver transplantation.

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“…2 Congenital urea cycle disorders are often identified at birth, but adult-onset cases have been reported. [3][4][5][6][7] The most common urea cycle disorder is ornithine transcar-bamylase (OTC) deficiency, an x-linked disorder with an incidence of 1 in 14 000. 1 OTC is responsible for converting ornithine and carbamoyl phosphate into citrulline (Figure 1).…”

Section: Introductionmentioning

confidence: 99%

Fatal Coma Secondary to Acute Onset of Hyperammonemia in a Non-Cirrhotic Adult Male Secondary to a Urea Cycle Enzyme Deficiency—a Rare Disease Case Report

Sonier

Owens

Khurana

et al. 2022

The Guthrie Journal

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Introduction Acute hyperammonemia in adult patients without liver disease is uncommon. Other etiologies are broad and can be difficult to rule out quickly. Urea cycle disorders such as ornithine transcarbamylase (OTC) deficiency are rare and often present in children. Adult-onset cases are rarer. This makes recognizing and treating late-onset urea cycle disorders challenging in the acute setting. Case Report We present the case of a 56-year-old male with a history of early onset coronary artery disease, chronic back pain, and heavy tobacco use who was found unconscious at home by a neighbor. He was found to have toxic levels of serum ammonia during further evaluation in the emergency department. Laboratory testing confirmed a diagnosis of OTC deficiency. Genetic analysis further showed a c.-106C>A variant of the OTC gene. Conclusion Although extremely rare, late-onset urea cycle disorders should be considered when patients present with altered mental status with hyperammonemia of unknown etiology. Furthermore, this case adds evidence that the c.-106C>A OTC gene variant has pathogenic significance.

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Hyperammonemic Coma in an Adult due to Ornithine Transcarbamylase Deficiency

Cited by 6 publications

References 12 publications

Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration

Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration

Peak hyperammonemia and atypical acute liver failure: The eruption of an urea cycle disorder during hyperemesis gravidarum

Fatal Coma Secondary to Acute Onset of Hyperammonemia in a Non-Cirrhotic Adult Male Secondary to a Urea Cycle Enzyme Deficiency—a Rare Disease Case Report

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