Tip 139: homocystinuria

The prevalence of homocystinuria is 1:144,000 (UK).

The most common cause is a defect in the enzyme β-cystathionine synthase (CBS); this is referred to as “classical” homocystinuria. The screening index metabolite is methionine and the confirmatory test is plasma aminoacids and total plasma homocysteine.

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

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

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