Spanish
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
JIMD Reports 2013

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

Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
El enlace se guarda en el portapapeles.
S Rodney
A Boneh

Palabras clave

Abstracto

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.

CONCLUSIONS

At 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.

Únete a nuestra
página de facebook

La base de datos de hierbas medicinales más completa respaldada por la ciencia

  • Funciona en 55 idiomas
  • Curas a base de hierbas respaldadas por la ciencia
  • Reconocimiento de hierbas por imagen
  • Mapa GPS interactivo: etiquete hierbas en la ubicación (próximamente)
  • Leer publicaciones científicas relacionadas con su búsqueda
  • Buscar hierbas medicinales por sus efectos.
  • Organice sus intereses y manténgase al día con las noticias de investigación, ensayos clínicos y patentes.

Escriba un síntoma o una enfermedad y lea acerca de las hierbas que podrían ayudar, escriba una hierba y vea las enfermedades y los síntomas contra los que se usa.
* Toda la información se basa en investigaciones científicas publicadas.

Google Play badgeApp Store badge