There are currently 46 states screening their babies for ALD at birth. State labs that screen for ALD measure the concentration of very long-chain fatty acids (VLCFAs) in a baby's plasma (a component of blood). If the VLCFAs are elevated, the blood will then be checked for confirmation of ALD through genetic testing. The ABCD1 gene is the gene associated with ALD. If a mutation in the ABCD1 gene is discovered along with the presence of elevated VLCFA, a diagnosis of ALD is given at birth.
If a baby shows elevated VLCFAs on their newborn screen test and genetic testing determines they are negative for ALD, the increased amount of VLCFA could potentially indicate another disease.
The next most common disorder associated with elevated VLCFAs is Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD). PBD-ZSD is a group of diseases that occur due to mutations in the PEX genes. It represents a wide spectrum of diseases that can range from mild to severe and will affect each individual differently. The ZSD Alliance has more information about symptoms, incidence rate, and important resources for PBD-ZSD.
Mirum Pharmaceuticals has partnered with PreventionGenetics to offer a no-cost genetic testing program to qualifying patients to help identify PBD-ZSD and other disorders within the states offering ALD newborn screening. Testing is offered to children who screen positive for ALD on the first VLCFA test but negative for the ALD gene mutation. This is known as the ALD Newborn Screening Reflex Test Program.
If a baby shows elevated VLCFAs on their newborn screen test and genetic testing determines they are negative for ALD, the increased amount of VLCFA could potentially indicate another disease.
The next most common disorder associated with elevated VLCFAs is Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD). PBD-ZSD is a group of diseases that occur due to mutations in the PEX genes. It represents a wide spectrum of diseases that can range from mild to severe and will affect each individual differently. The ZSD Alliance has more information about symptoms, incidence rate, and important resources for PBD-ZSD.
Mirum Pharmaceuticals has partnered with PreventionGenetics to offer a no-cost genetic testing program to qualifying patients to help identify PBD-ZSD and other disorders within the states offering ALD newborn screening. Testing is offered to children who screen positive for ALD on the first VLCFA test but negative for the ALD gene mutation. This is known as the ALD Newborn Screening Reflex Test Program.
