This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Isovaleric acidaemia

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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.


Create an account to add page annotations

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.