Tip 144: isovaleric acidaemia

The prevalence is 1 in 155,000 (EU). It is due to a deficiency of isovaleryl-CoA dehydrogenase involved in the breakdown of the amino acid, leucine. It is an autosomal recessive disorder. The screening metabolite is isovaleryl carnitine, C5. The confirmatory tests are plasma acylcarnitines and urinary organic acids.

External link: National Institute for Health Research, Expanded Newborn Screening Programme

Previously published: 21/o7/14

Advertisements
This entry was posted in Congenital anomalies, Metabolic, Screening. Bookmark the permalink.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s