Ornithine Transcarbamylase Deficiency Presenting as Encephalopathy During Adulthood Following Bariatric Surgery

Hu, William T.; Kantarci, Orhun H.; Merritt, J. Lawrence; McGrann, Pamela; Dyck, Peter J.; Lucchinetti, Claudia F.; Tippmann‐Peikert, Maja

doi:10.1001/archneur.64.1.126

Cited by 53 publications

(28 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“… Case 1 identified by Summar et al ; case 2 – Hu et al ; case 3 – Limketkai et al ; cases 4‐8 – Fenves et al ; case 13 – Goodin et al ; case 19 – Estrella et al ; case 20 – Rogal et al ; cases 9‐12 and 14‐18 – additional cases identified by the authors (AZF and AM) since the original publication by Fenves et al .…”

Section: Resultsmentioning

confidence: 99%

Hyperammonemic syndrome after Roux‐en‐Y gastric bypass

Fenves

Shchelochkov

Mehta

2015

Obesity

View full text Add to dashboard Cite

Objective: Hyperammonemic encephalopathy is an uncommon but severe complication of the Roux-en-Y gastric bypass surgery for obesity. Mechanisms underlying this complication are incompletely understood, resulting in delayed recognition and management. This study evaluated common laboratory findings and possible etiology of hyperammonemic encephalopathy after successful Roux-en-Y gastric bypass surgery. Methods: A retrospective review of 20 patients identified through our own clinical practice was conducted, with the addition of similar cases from other institutions identified through the review of literature. Results: Patients presenting with hyperammonemic encephalopathy after Roux-en-Y gastric bypass surgery presented with overlapping clinical and laboratory findings. Common features included: (1) weight loss following successful Roux-en-Y gastric bypass for obesity; (2) hyperammonemic encephalopathy accompanied by elevated plasma glutamine levels; (3) absence of cirrhosis; (4) hypoalbuminemia; and (5) low plasma zinc levels. The mortality rate was 50%. Ninety-five percent of patients were women. Three patients were diagnosed with proximal urea cycle disorders. One patient experienced improvement in the hyperammonemia after surgical correction of spontaneous splenorenal shunt. Conclusions: Hyperammonemic encephalopathy after Roux-en-Y gastric bypass surgery is a newly recognized, potentially fatal syndrome with diverse pathophysiologic mechanisms encompassing genetic and nongenetic causes.

show abstract

Section: Resultsmentioning

confidence: 99%

Hyperammonemic syndrome after Roux‐en‐Y gastric bypass

Fenves

Shchelochkov

Mehta

2015

Obesity

View full text Add to dashboard Cite

show abstract

“…Individuals with sequence variants that allow residual OTC activity can present with hyperammonemia at any point in life, while others remain asymptomatic. In patients with late onset OTCD, acute hyperammonemia can be triggered by a high protein meals (Ben-Ari et al, 2010; Thurlow et al, 2010; Cavicchi et al, 2014), fasting (Marcus et al, 2008), infections (McGuire et al, 2013), invasive medical procedures (Chiong et al, 2007; Hu et al, 2007; Bezinover et al, 2010), chemotherapy (Lipskind et al, 2011; Cavicchi et al, 2014), or other environmental insults that result in increased protein catabolism and ammonia production (Seminara et al, 2010). Missense mutations that cause partial OTCD reduce OTC enzymatic activity or stability while mutations in the vicinity of consensus splice sites can potentially affect mRNA processing and result in decreased abundance of the OTC enzyme.…”

Section: Clinical Diagnostic and Biological Relevancementioning

confidence: 99%

Genotype–Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update

Caldovic

Abdikarim

Narain

et al. 2015

Journal of Genetics and Genomics

131

137

View full text Add to dashboard Cite

Ornithine transcarbamylase (OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of the urea cycle. OTC is one of the enzymes common to both the urea cycle and the bacterial arginine biosynthesis pathway; however, the role of OTC has changed over evolution. For animals with a urea cycle, defects in OTC can trigger hyperammonemic episodes that can lead to brain damage and death. This is the fifth mutation update for human OTC with previous updates reported in 1993, 1995, 2002, and 2006. In the 2006 update, 341 mutations were reported. This current update contains 417 disease-causing mutations, and also is the first report of this series to incorporate information about natural variation of the OTC gene in the general population through examination of publically available genomic data and examination of phenotype/genotype correlations from patients participating in the Urea Cycle Disorders Consortium Longitudinal Study and the first to evaluate the suitability of systematic computational approaches to predict severity of disease associated with different types of OTC mutations.

show abstract

“…However, there have been no reports on chemotherapy agents (taxanes and platinum agents) used in the treatment of ovarian cancer, as the case in our patient. Surgical procedures or interventions reported to be associated with hyperammonemia include lung transplantation [10], bone marrow transplantation [11], and bariatric surgery [12]. Although the most common cause of hyperammonemia seems to be hepatic dysfunction, this is unlikely to be the cause in our patient given the normal liver function test results.…”

Section: Discussionmentioning

confidence: 93%

Sudden severe hyperammonemia and status epilepticus -a case report-

Shin

Jang

Lee

et al. 2013

Korean J Anesthesiol

View full text Add to dashboard Cite

There are various causes to a low level of consciousness in patients in the intensive care unit. Neurological injury, infection, and metabolic disarray are considered as some of the causes. A 39 year-old female patient was transferred to our hospital with septic shock due to ascending colon perforation. The patient had previously received ovarian cancer surgery and a cycle of chemotherapy at another hospital. Emergent operation for colon perforation was successful. After the operation, she was treated in the intensive care unit for infectious and pulmonary complications. She suddenly showed deterioration in her level of consciousness and had a generalized seizure. At the time of her seizure, she had severe hyperammonemia. Brain CT showed severe cerebral edema that was absent in the CT scan taken 2 days before. Continuous renal replacement therapy was conducted but was ineffective in lowering the level of serum ammonia and the patient subsequently died.

show abstract

Ornithine Transcarbamylase Deficiency Presenting as Encephalopathy During Adulthood Following Bariatric Surgery

Cited by 53 publications

References 12 publications

Hyperammonemic syndrome after Roux‐en‐Y gastric bypass

Hyperammonemic syndrome after Roux‐en‐Y gastric bypass

Genotype–Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update

Sudden severe hyperammonemia and status epilepticus -a case report-

Contact Info

Product

Resources

About