ArticleJIMD reports2013
Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic Decompensation.
Article in JIMD reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 29 citations in OpenAlex.
- Assessment of genetic and metabolite associations of branched chain amino acids with metabolic disease in the UK Biobank using Mendelian randomization.BMC medical genomics · 2025Article
- Use of an oversized AAV8 vector for CPS1 deficiency results in long-term survival and ammonia control.Molecular therapy. Nucleic acids · 2025Article
- Characterization of a novel conditional knockout mouse model to assess efficacy of mRNA therapy in the context of severe OTC deficiency.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Single centre retrospective review of plasma branched-chain amino acid levels in children with urea cycle disorders: Impact of treatment modalities and disease severity.Molecular genetics and metabolism reports · 2025Article
- Origin and Roles of Alanine and Glutamine in Gluconeogenesis in the Liver, Kidneys, and Small Intestine under Physiological and Pathological Conditions.International journal of molecular sciences · 2024Review
- Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management.JIMD reports · 2023Article
- Aspartic Acid in Health and Disease.Nutrients · 2023Review
- Metabolite, protein, and tissue dysfunction associated with COVID-19 disease severity.Scientific reports · 2022Article
- Mitochondrial hepatopathy: Anticipated difficulties in management of fatty acid oxidation defects and urea cycle defects.World journal of hepatology · 2022Review
- The role of skeletal muscle in the pathogenesis of altered concentrations of branched-chain amino acids (valine, leucine, and isoleucine) in liver cirrhosis, diabetes, and other diseases.Physiological research · 2021Review
- Machine Learning for the Biochemical Genetics Laboratory.Clinical chemistry · 2020Article
- Branched-Chain Amino Acids and Branched-Chain Keto Acids in Hyperammonemic States: Metabolism and as Supplements.Metabolites · 2020Review
- High Protein Diet and Metabolic Plasticity in Non-Alcoholic Fatty Liver Disease: Myths and Truths.Nutrients · 2019Review
- Branched-chain amino acids in health and disease: metabolism, alterations in blood plasma, and as supplements.Nutrition & metabolism · 2018Review
- Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives.Patient preference and adherence · 2017Review
- Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy.SAGE open medical case reports · 2014Article
- Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.Molecular genetics and metabolismArticle
Corrections and comments
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Authors and funding
2 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledUrea 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.
conclusionAt admission, protein deficiency is common in patients with a UCD with hyperammonaemia. These results challenge the current guideline of stopping protein intake during acute decompensation in UCDs. Supplementation with essential amino acids (particularly branched-chain amino acids) at these times should be considered.
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Registered trials
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