<abstract xmlns="http://www.w3.org/1999/xhtml">

Primary hyperammonaemia is a term to describe an elevation of ammonia in blood or plasma due to a defect within the urea cycle, which is the pathway responsible for ammonia detoxification and arginine biosynthesis. Urea cycle disorders (UCDs) are rare diseases caused by genetic defects affecting any of the six enzymes or two transporters that are directly involved in the urea cycle function.
The clinical situation is variable and largely depends on the time of onset. Newborns who are often affected by hyper-ammonaemic encephalopathy carry a potential risk of severe brain damage, which may lead to death. Outside the neonatal period, symptoms are very unspecific but most often neurological (with wide variability), psychiatric and/or gastrointestinal. Early identification of patients is extremely important to start effective treatment modalities immediately. The acute management includes detoxification of ammonia, which often requires extracorporeal means such as haemodialysis, and the use of intravenous drugs that work as nitrogen scavengers. Long-term management of patients with UCDs consists of a low-protein diet, which needs to be balanced and supplemented to avoid deficiencies of essential amino acids, trace elements or vitamins and the use of nitrogen scavengers.
The reader will find here a brief overview describing the most relevant aspects of the clinical management of UCDs in an attempt to raise awareness for this important group of rare diseases.</abstract>

Primary hyperammonaemia is a term to describe an elevation of ammonia in blood or plasma due to a defect within the urea cycle, which is the pathway responsible for ammonia detoxification and arginine biosynthesis. Urea cycle disorders (UCDs) are rare diseases caused by genetic defects affecting any of the six enzymes or two transporters that are directly involved in the urea cycle function.
The clinical situation is variable and largely depends on the time of onset. Newborns who are often affected by hyper-ammonaemic encephalopathy carry a potential risk of severe brain damage, which may lead to death. Outside the neonatal period, symptoms are very unspecific but most often neurological (with wide variability), psychiatric and/or gastrointestinal. Early identification of patients is extremely important to start effective treatment modalities immediately. The acute management includes detoxification of ammonia, which often requires extracorporeal means such as haemodialysis, and the use of intravenous drugs that work as nitrogen scavengers. Long-term management of patients with UCDs consists of a low-protein diet, which needs to be balanced and supplemented to avoid deficiencies of essential amino acids, trace elements or vitamins and the use of nitrogen scavengers.
The reader will find here a brief overview describing the most relevant aspects of the clinical management of UCDs in an attempt to raise awareness for this important group of rare diseases.

Primary hyperammonaemia: Current diagnostic and therapeutic strategies

Journal of Mother and Child

This work is licensed under the Creative Commons Attribution 4.0 International License.

{"article-title":"Primary hyperammonaemia: Current diagnostic and therapeutic strategies"}

Primary hyperammonaemia is a term to describe an elevation of ammonia in blood or plasma due to a defect within the urea cycle, which is the pathway...

Primary hyperammonaemia: Current diagnostic and therapeutic strategies

Article Category: Review paper

Published Online: Oct 02, 2020

Page range: 32 - 38

DOI: https://doi.org/10.34763/jmotherandchild.20202402si.2015.000006

Keywords
hyperammonaemia, urea cycle, nitrogen metabolism, encephalopathy, haemodialysis, low-protein diet, nitrogen scavengers

© 2020 Johannes Häberle, published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Primary hyperammonaemia: Current diagnostic and therapeutic strategies

Article Category: Review paper

Published Online: Oct 02, 2020

Page range: 32 - 38

DOI: https://doi.org/10.34763/jmotherandchild.20202402si.2015.000006

Keywordshyperammonaemia, urea cycle, nitrogen metabolism, encephalopathy, haemodialysis, low-protein diet, nitrogen scavengers

© 2020 Johannes Häberle, published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Keywords
hyperammonaemia, urea cycle, nitrogen metabolism, encephalopathy, haemodialysis, low-protein diet, nitrogen scavengers