Tip 143: glutaric aciduria type 1

The prevalence is 1:110,000 (EU).

It is an autosomal recessive condition caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. The screening index metabolite is glutaryl carnitine and the confirmatory test is plasma acylcarnitines, urinary organic acids, 3–OH glutarate and urinary glutaryl carnitine.

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

Previously published: 18/07/14

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

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