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

2016 ◽  
Vol 2016 ◽  
pp. 1-10 ◽  
Author(s):  
Ruby Upadhyay ◽  
Thomas P. Bleck ◽  
Katharina M. Busl
Keyword(s):  
Case Report ◽  
English Language ◽  
Clinical Presentation ◽  
Urea Cycle ◽  
Late Onset ◽  
Unique Case ◽  
Hyperammonemic Encephalopathy ◽  
Search Terms ◽  
Otc Deficiency ◽  
Cycle Disorders

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.

scholarly journals Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene—Expanding the Clinical Phenotype

2017 ◽  
Vol 2017 ◽  
pp. 1-3
Author(s):  
Ana Isabel Sánchez ◽  
Alejandra Rincón ◽  
Mary García ◽  
Fernando Suárez-Obando
Keyword(s):  
Urea Cycle ◽  
Late Onset ◽  
Clinical Phenotype ◽  
High Plasma ◽  
Ammonium Concentration ◽  
Adult Males ◽  
Expanded Newborn Screening ◽  
History Of ◽  
Otc Deficiency ◽  
Cycle Disorders

Ornithine transcarbamylase deficiency (OMIM: 311250) is the most common disorder of urea cycle disorders, accounting for nearly 50% of all cases. We report a case of a two-month- old male patient, who attends our medical genetics consultation because of low citrulline levels and elevated glutamine to citrulline ratio detected by expanded newborn screening with tandem mass spectrometry. He is an asymptomatic male with a normal physical examination and appropriate neurodevelopmental milestones. The patient has a family history of one older brother who died at 18 months old from severe and sudden hyperammonemia and a maternal aunt who suddenly died at two years old. He had high plasma ammonium concentration and a confirmed OTC mutation (p.A208T). Usually, this mutation causes OTC deficiency of late onset in adult males. However, this report raises awareness about mutations previously described as a late-onset causing disease, which can cause severe hyperammonemia and high risk of dying at an early age.

Urea Cycle Disorders: Clinical Presentation Outside the Newborn Period

2005 ◽  
Vol 21 (4) ◽  
pp. S9-S17 ◽  
Author(s):  
Wendy Smith ◽  
Priya S. Kishnani ◽  
Brendan Lee ◽  
Rani H. Singh ◽  
William J. Rhead ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Newborn Period ◽  
Cycle Disorders

scholarly journals Very late-onset behavioral variant frontotemporal dementia

2013 ◽  
Vol 7 (1) ◽  
pp. 136-139
Author(s):  
Henrique Cerqueira Guimarães ◽  
Tatiana de Carvalho Espindola
Keyword(s):  
Case Report ◽  
Frontotemporal Dementia ◽  
Frontotemporal Lobar Degeneration ◽  
Clinical Presentation ◽  
Late Onset ◽  
Ground Level ◽  
Dementia Diagnosis ◽  
Behavioral Variant Frontotemporal Dementia ◽  
Genetically Determined ◽  
Late Onset Dementia

ABSTRACT Current concepts regarding frontotemporal lobar degeneration (FTLD) have evolved rapidly in recent years. Genetically determined FTLD cohorts have broadened our knowledge pertaining to its clinical presentation, neuroimaging findings and demographics. In this study we present a case report of a patient diagnosed with behavioral variant frontotemporal dementia diagnosis in her nineties during hospital admission for a ground-level fall. We believe this case reinforces the pervasive nature of this clinical entity, and may contribute to an increased awareness of this diagnostic possibility in late-onset dementia.

scholarly journals Late-Onset Ornithine Carbamoyltransferase Deficiency Accompanying Acute Pancreatitis and Hyperammonemia

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Marcel Cerqueira Cesar Machado ◽  
Gilton Marques Fonseca ◽  
José Jukemura
Keyword(s):  
Urea Cycle ◽  
Late Onset ◽  
Neuronal Damage ◽  
Clinical Care ◽  
Subsequent Treatment ◽  
Neurological Symptoms ◽  
Urea Cycle Disorders ◽  
Cycle Disorders ◽  
Serum Ammonia ◽  
Timely Treatment

Hyperammonemia related to urea cycle disorders is a rare cause of potentially fatal encephalopathy that is encountered in intensive care units (ICUs). Left undiagnosed, this condition may manifest irreversible neuronal damage. However, timely diagnosis and treatment initiation can be facilitated simply by increased awareness of the ICU staff. Here, we describe a patient with acute severe pancreatitis who developed hyperammonemia and encephalopathy without liver disease. Urea cycle disorder was suspected and hemodialysis was initiated. Following reduction of ammonia levels, subsequent treatment included protein restriction and administration of arginine and sodium benzoate. The patient was discharged to home after 47 days with plasma ammonia within normal range and without neurological symptoms. In clinical care settings, patients with neurological symptoms unexplained by the present illness should be assessed for serum ammonia levels to disclose any urea cycle disorders to initiate timely treatment and improve outcome.

scholarly journals Recurrent hepatobiliary sepsis in a patient with von Meyenburg complexes: a case report and review of the literature

2016 ◽  
Vol 26 (2) ◽  
pp. 133-136 ◽  
Author(s):  
Doreen Siew Ching Koay ◽  
Wei Qiang Leow ◽  
Thuan Tong Tan ◽  
Gabrielle Slapak
Keyword(s):  
Liver Transplantation ◽  
Case Report ◽  
Congenital Malformation ◽  
Medical Therapy ◽  
Clinical Presentation ◽  
Review Of The Literature ◽  
Unique Case ◽  
Von Meyenburg Complex ◽  
Life Threatening ◽  
Immunodeficiency States

The von Meyenburg complex (VMC) is a rare, congenital malformation of the ductal plate. It is typically asymptomatic and usually discovered incidentally. We report a unique case of recurrent life-threatening hepatobiliary sepsis caused by VMC and a review of the literature. A 62-year-old man presented with recurrent episodes of life-threatening hepatobiliary sepsis. Extensive investigations only showed that he has VMCs without any other source of sepsis or underlying immunodeficiency states. Despite prolonged courses of antibiotics which resolved each episode of sepsis, he suffers repeated recurrences of hepatobiliary sepsis. Liver transplantation is now being considered in view of his refractoriness to medical therapy. As VMC can present with severe hepatobiliary sepsis, it is therefore essential to recognise its presence. This case adds to the literature the atypical but life-threatening clinical presentation of VMC.

scholarly journals Julius Caesar's Late Onset Epilepsy: A Case of Historic Proportions

2010 ◽  
Vol 37 (5) ◽  
pp. 557-561 ◽  
Author(s):  
Richard S. McLachlan
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Clinical Presentation ◽  
Late Onset ◽  
Real Possibility

This is a case report of Julius Caesar's epilepsy that onset when he was 54-years-old. The differential diagnosis of late onset epilepsy is discussed and the rationale presented for concluding from the clinical presentation that the cause was neurocysticercosis. That this man's disease and its consequences altered the course of history is a very real possibility.

scholarly journals Hyperammonemic Encephalopathy Associated with 5-Flurouracil Infusion in Head and Neck Cancer: Case Report and Review of the Literature

2021 ◽  
Author(s):  
Saikat Das ◽  
Aftab Ahmad ◽  
Pallav Prasun ◽  
Vipin Kharade ◽  
Manish Gupta
Keyword(s):  
Adverse Effect ◽  
Head And Neck Cancer ◽  
Case Report ◽  
Head And Neck ◽  
Neck Cancer ◽  
Clinical Presentation ◽  
Cancer Case ◽  
Review Of The Literature ◽  
Hyperammonemic Encephalopathy ◽  
Chemotherapy Agents

AbstractHyperammonemic encephalopathy is an uncommon, potentially lethal adverse effect of 5-fluorouracil (5-FU). Being one of the most common and versatile chemotherapy agents, it is important to understand this important side effect of 5FU. There is paucity of data in this subject. Here, we report a case of 5FU-induced encephalopathy in a patient on induction chemotherapy for head and neck cancer. In this case report, the clinical presentation, diagnosis, and management of 5FU-induced encephalopathy is reported.

Carrier Detection of Urea Cycle Disorders

PEDIATRICS ◽  
1981 ◽  
Vol 68 (3) ◽  
pp. 448-452
Author(s):  
W. G. Ng ◽  
J. Oizumi ◽  
R. Koch ◽  
K. N. F. Shaw ◽  
J. McLaren ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Screening Program ◽  
Cost Benefit ◽  
Carrier Detection ◽  
Urea Cycle Disorders ◽  
Frequency Of Occurrence ◽  
Cycle Enzyme ◽  
Carrier Identification ◽  
Otc Deficiency ◽  
Cycle Disorders

Published reports100,102,108 indicate that the degree of success attained in the treatment of infants with urea cycle disorders has not been completely satisfactory. Some new approaches in dietary management, using a combination of arginine, benzoate, and phenylacetate may be useful,67,72,76 but more studies are required. In many instances, clinical problems reflect delays in biochemical diagnosis. Families at risk need to be identified and the genotype of the fetus should be established as soon as feasible after conception, so that appropriate management can be provided during pregnancy and after delivery. Availability of effective methods for carrier detection is a critical component of this process. With any metabolic disorder, a number of factors should be considered for carrier detection. These include: (1) frequency of occurrence of affected patients in the available population, (2) mode of inheritance, (3) cost-benefit ratio, (4) soundness of the methodology used, and (5) feasibility of prenatal diagnosis. Interestingly, the Tay-Sachs prevention program with the major objective of carrier identification is the only accepted program that has been widely discussed and evaluated.109 The frequency of occurrence of each of the five urea cycle enzyme disorders is uncertain, but ornithine transcarbamylase (OTC) deficiency, the only sex-linked disorder, is considered to be the most common. Not only the hemizygotes, but also many of the heterozygotes of OTC deficiency are clinically affected. The frequency of argininosuccinic aciduria has been estimated to be 1 in 60,000, based on results of a newborn screening program carried out in Massachusetts.110 Carrier identification of urea cycle disorders in the general population is not practical because of cost considerations, but it should be applied to members of affected families.

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

2021 ◽  
Vol 14 (5) ◽  
pp. e241429
Author(s):  
Daniel Kazmierski ◽  
Nishant Sharma ◽  
Kelly O'Leary ◽  
Pius Ochieng
Keyword(s):  
Cerebral Oedema ◽  
Urea Cycle ◽  
Late Onset ◽  
Genetic Disorder ◽  
Management Strategies ◽  
Ornithine Transcarbamylase ◽  
Ornithine Transcarbamylase Deficiency ◽  
History Of ◽  
Otc Deficiency ◽  
Psychiatric Conditions

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.

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