Hyperammonemia: What Urea-lly Need to Know: Case Report of Severe Noncirrhotic Hyperammonemic Encephalopathy and Review of the Literature.

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Abstract

Purpose. A 66-year-old man who presented with coma was found to have isolated severe hyperammonemia and diagnosed with a late-onset urea-cycle disorder. He was treated successfully and had full recovery. Methods. We report a novel case of noncirrhotic hyperammonemia and review the literature on this topic. Selected literature for review included English-language articles concerning hyperammonemia using the search terms "hyperammonemic encephalopathy", "non-cirrhotic encephalopathy", "hepatic encephalopathy", "urea-cycle disorders", "ornithine transcarbamylase (OTC) deficiency", and "fulminant hepatic failure". Results. A unique case of isolated hyperammonemia diagnosed as late-onset OTC deficiency is presented. Existing evidence about hyperammonemia is organized to address pathophysiology, clinical presentation, diagnosis, and treatment. The case report is discussed in context of the reviewed literature. Conclusion. Late-onset OTC deficiency presenting with severe hyperammonemic encephalopathy and extensive imaging correlate can be fully reversible if recognized promptly and treated aggressively.

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Correlation between ammonia levels and the severity of hepatic encephalopathy

Janus P Ong, Anjana Aggarwal, Derk Krieger … (2003)

The American Journal of Medicine, 114(3), 188-193

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Congenital absence of the portal vein: two cases and a proposed classification system for portasystemic vascular anomalies.

Debra Morgan, R Superina (1994)

Congenital absence of the portal vein (CAPV) is an unusual condition that often is associated with other anomalies. This is the first report of reduced-size liver transplant in a patient with CAPV. Because the presence of this rare congenital portasystemic shunt, there was no portal-systemic pressure differential, and thus an absence of collateral vessels in the pretransplant state. As a result, surgery was complicated by severe mesenteric edema caused by an increase in portal pressure when the allograft was implanted. The morbidity associated with CAPV usually results from associated conditions, but if transplantation is necessary, careful management of mesenteric congestion is crucial to success. The authors' experience and a review of the literature indicate that the CAPV can be classified into one of two groups of portasystemic anomalies.

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Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.

Ljubica Caldovic, Iman Abdikarim, Sahas Narain … (2015)

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 publicly 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.