scholarly journals Late onset of inherited urea cycle disorder - ornithine transcarbamoylase deficiency

2016 ◽  
Vol 17 (1) ◽  
pp. 52-55
Author(s):  
Jan Papež ◽  
Tomáš Honzík ◽  
Pavel Ješina ◽  
Petr Jabandžiev ◽  
Jiří Štarha ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Late Onset ◽  
Urea Cycle Disorder ◽  
Ornithine Transcarbamoylase

Misdiagnosed Postpartum Psychosis Revealing a Late-Onset Urea Cycle Disorder

2011 ◽  
Vol 168 (6) ◽  
pp. 576-580 ◽  
Author(s):  
Thomas Fassier ◽  
Nathalie Guffon ◽  
Cécile Acquaviva ◽  
Thierry D'Amato ◽  
Denis Vital Durand ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Late Onset ◽  
Urea Cycle Disorder ◽  
Postpartum Psychosis

Late-onset urea cycle disorder in adulthood unmasked by severe malnutrition

Nutrition ◽  
2014 ◽  
Vol 30 (7-8) ◽  
pp. 943-947 ◽  
Author(s):  
Diana L. Wells ◽  
Jillian B. Thomas ◽  
Gordon S. Sacks ◽  
L. Anna Zouhary
Keyword(s):  
Urea Cycle ◽  
Late Onset ◽  
Urea Cycle Disorder ◽  
Severe Malnutrition

972: HYPERAMMONEMIA ASSOCIATED WITH LATE-ONSET UREA CYCLE DISORDER

2018 ◽  
Vol 46 (1) ◽  
pp. 469-469
Author(s):  
Colleen Whyte ◽  
Jamie Rosini ◽  
Andrea Tully ◽  
Tep Kang
Keyword(s):  
Urea Cycle ◽  
Late Onset ◽  
Urea Cycle Disorder

Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients

2009 ◽  
Vol 25 (3) ◽  
pp. 352-358 ◽  
Author(s):  
Mercedes Serrano ◽  
Cecilia Martins ◽  
Belén Pérez-Dueñas ◽  
Lilian Gómez-López ◽  
Empar Murgui ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Late Onset ◽  
Urea Cycle Disorder ◽  
Neuropsychiatric Manifestations

scholarly journals Late diagnosis of a rare urea cycle disorder mimicking Kleine-Levin syndrome

2018 ◽  
Vol 8 (6) ◽  
pp. e43-e45
Author(s):  
Nina Bozinov ◽  
Michelle Han ◽  
Winnie Lau ◽  
Veronica Santini
Keyword(s):  
Urea Cycle ◽  
Urea Cycle Disorder ◽  
Late Diagnosis

scholarly journals Urea cycle disorder misdiagnosed as multiple sclerosis: a case report and review of the literature

2017 ◽  
Vol 31 (2) ◽  
pp. 213-217 ◽  
Author(s):  
Hussein Algahtani ◽  
Seham Alameer ◽  
Yousef Marzouk ◽  
Bader Shirah
Keyword(s):  
Multiple Sclerosis ◽  
Urea Cycle ◽  
Urea Cycle Disorder ◽  
Neurological Dysfunction ◽  
Urea Cycle Disorders ◽  
Inborn Errors ◽  
Relapsing Remitting ◽  
Wrong Diagnosis ◽  
Cycle Disorders ◽  
Intravenous Steroids

Urea cycle disorders are a group of inborn errors of metabolism caused by dysfunction of any of the six enzymes or two transport proteins involved in urea biosynthesis. In this paper, we report a patient who presented with neurological dysfunction and coma in the immediate postpartum period. She was misdiagnosed for many years as a case of multiple sclerosis. The importance of reporting this case is to illustrate that the wrong diagnosis of patients as being affected with multiple sclerosis for many years due to magnetic resonance imaging abnormalities rather than the classic relapsing–remitting nature of the disease may lead to catastrophic consequences. The patient was treated with intravenous steroids several times, which is contraindicated in patients with urea cycle disorders as it may precipitate acute hyperammonemic attacks. In addition, the management of urea cycle disorder could have started earlier and avoided multiple admissions to the intensive care unit. We believe that the presence of symmetric hyperintense insular cortical changes are seen in multiple hyperammonemic processes, and in the context of the clinical presentation and high ammonia levels can be suggestive of a urea cycle disorder. For any patient presenting with atypical clinical features, images should be reviewed and discussed in detail with an experienced neuroradiologist. In addition, the ammonia levels should be checked if a urea cycle disorder is suspected.

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

2018 ◽  
Vol 68 (1) ◽  
pp. 185-192 ◽  
Author(s):  
Nicolas Weiss ◽  
Fanny Mochel ◽  
Marika Rudler ◽  
Sophie Demeret ◽  
Pascal Lebray ◽  
...  
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Urea Cycle ◽  
Hyperemesis Gravidarum ◽  
Urea Cycle Disorder
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