Neonatal screening for OCTN2 deficiency

The Health Council recommends adding the severe form of the metabolic disease OCTN2 deficiency (also known as primary carnitine deficiency) 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 disadvantages of screening. This is the main conclusion of an advisory report sent by the council to the State Secretary of Health, Welfare and Sport.

OCTN2 deficiency is a rare inherited metabolic disease. The benign form of the disease is most common and often does not lead to health problems. The severe form can cause life-threatening low blood sugar levels, liver disease and heart problems, often during the first year of life. Once symptoms have occurred, treatment is often too late. The sustained health damage can be irreversible and even lead to death.

Adding severe OCTN2 deficiency to the newborn blood spot screening programme will prevent serious disease or death of a child every three to four years. According to the council, this outweighs the potential harms of screening for referred children who do not have the disease. The council does point out the importance of improving the screening method, so that fewer children are unnecessarily referred. The council recommends re-evaluating screening for OCTN2 deficiency in ten years.