Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature
Joint Authors
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-04-25
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
While the urea cycle disorders (UCDs) classically present in the neonatal stage, they have become increasingly recognized as a rare cause of unexplained hyperammonemic encephalopathy in adults.
Many metabolic triggers for late-onset UCDs have been described in the literature including excessive protein intake.
In this case series, ten such documented cases are reviewed with analysis of patient demographic, protein load, treatment course, and patient outcome.
Common delays in treatment include recognition of hyperammonemia as the cause of encephalopathy and initiation of hemodialysis.
In only one case was a diet history used to raise suspicion for a metabolic derangement.
Metabolic disorders remain an important consideration in adults presenting with encephalopathy not explained by more common etiologies, and recent and remote dietary history may provide valuable information.
American Psychological Association (APA)
Barkovich, E.& Gropman, A. L.. 2020. Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature. Case Reports in Genetics،Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1147251
Modern Language Association (MLA)
Barkovich, E.& Gropman, A. L.. Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature. Case Reports in Genetics No. 2020 (2020), pp.1-5.
https://search.emarefa.net/detail/BIM-1147251
American Medical Association (AMA)
Barkovich, E.& Gropman, A. L.. Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature. Case Reports in Genetics. 2020. Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1147251
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1147251