Important Update to Hawaii’s Newborn Metabolic Screening Panel

Posted on Dec 14, 2023 in Announcements

Photo: Woman Holding a Newborn

The Hawaii Newborn Metabolic Screening Program is pleased to announce the additions of Spinal Muscular Atrophy (SMA) and X-linked Adrenoleukodystrophy (X-ALD) to the State of Hawaii’s newborn screening panel starting January 1, 2024.

SMA and X-ALD are currently recommended on the US Department of Health and Human Services Recommended Uniform Screening Panel (RUSP). This past year, Hawaii’s Newborn Screening Advisory Committee recommended the additions of SMA and X-ALD to our State’s newborn screening panel.

SMA is an inherited neurological condition the affects the motor neurons in the spinal cord. Motor neurons are responsible for sending signals from the brain to the muscle. When these motor neurons are not working properly or are absent muscles can not work and start to weaken and atrophy (waste away).

X-ALD is an inherited X-linked condition that affects the brain, nervous system, and adrenal glands. This condition mainly affects males; however, females can be carriers of X-ALD and may develop less severe symptoms. X-ALD occurs when a protein called adrenoleukodystrophy protein (ALDP) is either missing or not working properly. This protein’s job is to transport certain fats from the body to be broken down. When ALDP is not working  these fats build up and can be very harmful to different parts of the body.

SMA and X-ALD newborn screening will be completed alongside the other disorders currently screened for with a heel stick blood spot. No additional blood sample will be needed.