This site is intended for healthcare professionals
General Practice Notebook
Medical search

isovaleric acidaemia

FREE subscriptions for doctors and students... click here
You have 3 open access pages.

Isovaleric acidaemia is an inborn error of amino acid metabolism where isovaleryl CoA dehydrogenase is absent.

Presenation is with vomiting and lethargy which may progress to convulsions, coma and death. There is a characteristic smell of sweaty feet.

Treatment involves supportive measures and administration of glycine, which conjugates isovaleryl CoA.

 
General Practice Notebook
General Practice Notebook
The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions. Copyright 2016 Oxbridge Solutions Ltd®. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions Ltd® receives funding from advertising but maintains editorial independence. GPnotebook stores small data files on your computer called cookies so that we can recognise you and provide you with the best service. If you do not want to receive cookies please do not use GPnotebook.