Tip 138: maple syrup urine disease

The prevelance of MSUD is 1:116,000 in the UK.

It is an autosomal recessive condition caused by defects in a group of enzymes called the ‘branched chain 2-ketoacid dehydrogenase complex’, which normally break down the amino acids leucine, isoleucine and valine.

The screening index metabolite is leucine and the confirmatory test is urinary organic acids and plasma amino acids.

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

First published: 10/07/14

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