Since 1 October, the metabolic disorder adrenoleukodystrophy (ALD) has been added to the Dutch newborn blood spot screening. From now on, the blood of newborn boys will also be tested for this disorder. ALD in boys can be treated if it is detected in time. Girls with ALD cannot be treated. Their symptoms are usually milder, and they get them later in life. That is why only the blood of boys is tested for ALD. 

Now that ALD has been added, the number of diseases that can be detected with newborn blood spot screening is 27. For this blood spot screening, a few drops of blood will be taken from your baby’s heel in the first week after birth. The blood will be tested in the laboratory for 27 rare, but serious congenital diseases that can be treated. Participation is voluntary.

About the metabolic disorder ALD

Adrenoleukodystrophy (ALD) is a rare, but serious hereditary metabolic disorder. It can seriously damage the brain and adrenal glands of boys who have it. Early detection and treatment can prevent this. It is expected that newborn blood spot screening will lead to the detection of between 5 and 10 newborn boys with ALD in the Netherlands every year.

If the blood spot screening result is abnormal, the child must go to Amsterdam UMC for further assessment. If the UMC’s ALD expertise centre confirms the ALD diagnosis, the centre will check the child regularly. This is to make sure that the ALD treatment can start on time.

Treating boys with ALD

The ALD diagnosis cannot predict what symptoms boys will get. If the disorder is not treated, 1 in 3 boys with ALD will get a serious inflammation of the brain. This is called ‘cerebral ALD’. It can be treated successfully if it is detected early and the child is checked regularly. Cerebral ALD is treated with a stem cell transplant. In half of all boys with ALD, the adrenal glands will also be damaged. If the damage is discovered too late, the child can become seriously ill. If it is discovered in time, it can be treated with medication. 

Girls with ALD

Girls with ALD have a different, usually milder type of the disorder. This type cannot be treated. Girls with ALD have symptoms later in life (between the ages of 40 and 60). Because girls with ALD cannot be treated and get symptoms later in life, the Health Council of the Netherlands has advised not to test them for ALD.