Add OCTN2 deficiency to the newborn blood spot screening programme

The Health Council recommends adding the severe form of the metabolic disease OCTN2 deficiency (also known as primary carnitine deficiency) as a target disease to the newborn blood spot screening programme. This will allow children with the disease to be treated before they develop serious health problems. Early treatment completely prevents these problems. This benefit outweighs the harms of screening. This is the main conclusion of an advisory report sent by the council to the State Secretary of Health, Welfare and Sport.

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