From 1 October 2023, the blood of newborn babies will also be tested for the metabolic disorder adrenoleukodystrophy (ALD). This is done with the heel prick screening test. Only the blood of newborn boys will be tested for ALD. This disorder can be treated if it is detected in time. Girls with ALD cannot be treated. Their symptoms are usually mild, and they get them later in life. That is why only the blood of boys is tested for ALD.
In the first week after birth, a few drops of blood will be taken from your baby’s heel. A laboratory will test the blood for several rare, but serious congenital diseases. From October, the blood taken for the heel prick screening test will also be tested for ALD. Participation in the test is voluntary.
About the metabolic disorder ALD
Adrenoleukodystrophy (ALD) is a rare, but serious metabolic disorder. It is also hereditary. It can seriously damage the brain and adrenal glands of boys who have it. Early detection and treatment can prevent this.
If the heel prick screening test result shows signs of ALD, the child must go to Amsterdam UMC for further research. 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 the symptoms that boys will get. If the disorder is not treated, one in three 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 life-saving 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. Between 5 and 10 newborn boys with ALD will probably be detected in the Netherlands every year.
Girls with ALD
Girls with ALD have a different, 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 advised not to test them for ALD.
Now that ALD has been added, the number of disorders that can be detected with the heel prick screening test is 27.