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

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

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