Urea cycle disorder

Urea cycle disorder is a rare genetic disorder in which there is a full or partial deficiency in the enzymes of the urea cycle, causing a defect in the metabolism of excess nitrogen, and leading to hyperammonemia. This article reviews the clinical presentation, diagnosis, treatment, and drug-disease state implications of urea cycle disorders.

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Urea Cycle Disorders: Clinical Presentation Outside the Newborn Period

Critical Care Clinics ◽

10.1016/j.ccc.2005.05.007 ◽

2005 ◽

Vol 21 (4) ◽

pp. S9-S17 ◽

Cited By ~ 54

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

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

The Neuroradiology Journal ◽

10.1177/1971400917715880 ◽

2017 ◽

Vol 31 (2) ◽

pp. 213-217 ◽

Cited By ~ 5

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.

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Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-019-1177-3 ◽

2019 ◽

Vol 14 (1) ◽

Author(s):

Silene M. Silvera-Ruiz ◽

José A. Arranz ◽

Johannes Häberle ◽

Celia J. Angaroni ◽

Miriam Bezard ◽

...

Keyword(s):

Clinical Presentation ◽

Urea Cycle ◽

Urea Cycle Disorders ◽

Cycle Disorders

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Mutation analysis of urea cycle disorders

Journal of Pediatric Biochemistry ◽

10.1055/s-0036-1586459 ◽

2016 ◽

Vol 04 (01) ◽

pp. 033-043

Author(s):

Johannes Häberle ◽

Véronique Rüfenacht

Keyword(s):

Mutation Analysis ◽

Urea Cycle ◽

Urea Cycle Disorders ◽

Cycle Disorders

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Human medicines European public assessment report (EPAR): Ravicti, glycerol phenylbutyrate, Urea Cycle Disorders, Inborn, Date of authorisation: 26/11/2015, Revision: 10, Status: Authorised

Case Medical Research ◽

10.31525/cmr-41abf0 ◽

2019 ◽

Author(s):

Keyword(s):

Urea Cycle ◽

Urea Cycle Disorders ◽

Assessment Report ◽

European Public ◽

European Public Assessment Report ◽

Cycle Disorders

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Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2019-0413 ◽

2020 ◽

Vol 33 (6) ◽

pp. 721-728

Author(s):

Özlem Saritaş Nakip ◽

Yılmaz Yıldız ◽

Ayşegül Tokatlı

Keyword(s):

Mortality Rate ◽

Urea Cycle ◽

Laboratory Data ◽

Patient Characteristics ◽

Hereditary Diseases ◽

Urea Cycle Disorders ◽

Carbamoyl Phosphate ◽

Term Survival ◽

Genetic Features ◽

Cycle Disorders

AbstractObjectivesUrea cycle disorders (UCDs) are rare hereditary diseases. This study was conducted to help identify the characteristics of UCDs in Turkey.MethodsThe primary outcome was to determine patient characteristics. Investigating the relationships between the patient outcomes and ammonia levels were the secondary outcomes. Eighty five patients from 79 families, diagnosed with UCD at a single metabolic referral center between 1979 and 2017, were included. Clinical and laboratory data were retrieved retrospectively from hospital records.ResultsClassical citrullinemia was the most common type of UCD; citrin deficiency and carbamoyl phosphate synthase 1 deficiency (CPS1D) were the rarest. One thirty one hyperammonemic episodes were recorded. The peak ammonia levels were found to be significantly associated with polycythemia and hypocalcemia at presentation. The median peak ammonia values of the patients who died were higher than those of the survivors. The highest mortality rate was in the classical citrullinemia group. The mortality rate of the first hyperammonemic crisis was 28.6%, while it was 6.7% in subsequent episodes with an odds ratio of 4.28 (95% CI: 1.67–11.0) (p=0.001). Forty-four patients underwent genetic analysis and genetic variants were detected in 42 patients (95%). Three of the detected variants have not been previously reported.ConclusionsThis is the largest UCD series in Turkey and may serve as a guide to clinical, biochemical and genetic features of UCDs in our country. Prevention of hyperammonemia may be the most influential measure to improve long term survival.

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