English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Urea cycle disorders (UCDs) result from inherited defects in the ammonia detoxification pathway, leading to episodes of hyperammonaemia and encephalopathy. The purpose of this study was to answer the question, "what is the likely plasma amino acid profile of a patient known to have a UCD presenting with hyperammonaemia during acute metabolic decompensation", in order to support informed decisions regarding management.We analysed the results of plasma ammonia levels and amino acid profiles taken simultaneously or within 30 min of each other during acute admissions of all patients with a UCD at the Royal Children's Hospital, Melbourne, over 28 years. Samples from 96 admissions (79, 9 and 8 admissions for OTC, CPS and ASS deficiencies, respectively) from 14 patients fulfilled these criteria. Amino acid levels were measured by ion exchange chromatography with post-column ninhydrin derivatisation and interpreted in relation to age-related reference ranges.Plasma concentrations of all measured essential amino acids were low or low-normal in almost all samples. There was a strong positive correlation between low plasma branched-chain amino acids and other essential amino acids, and a negative correlation between ammonia and phenylalanine to tyrosine (Phe:Tyr) ratio in patients with OTC deficiency, and between glutamine and Phe:Tyr ratio in all patients, indicating protein deficiency.

Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic Decompensation