4 conditions added to Alabama newborn screening panel

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(Source: WSFA 12 News file photo)((Source: WSFA 12 News))
Published: Feb. 15, 2022 at 3:48 PM CST
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MONTGOMERY, Ala. (WSFA) - The Alabama Department of Public Health says four new conditions have been approved to the state’s newborn screening panel.

That means health officials can possibly identify and treat infants affected with certain genetic or metabolic conditions, which can prevent premature death and reduce morbidity and intellectual and other disabilities.

The State Committee of Public Health approved a rule revision to add these conditions in late 2021. The ADPH Bureau of Clinical Laboratories, or BCL, now screens for 35 conditions.

The conditions that have been approved for newborn screening include:

Spinal muscular atrophy (SMA)

SMA is a rare genetic disorder that results in changes to the genes affecting nerve cells. The lack of nerve cell protein can lead to weakness and death in children without treatment. Screening begins on Feb. 14.

X-linked adrenoleukodystrophy (X-ALD)

X-ALD is a rare disorder caused by a change in a single gene and can cause death during childhood without treatment. The BCL anticipates testing by the end of 2022.

Pompe disease

Pompe disease is a lysosomal storage disorder that is caused by changes in a single gene. The conditions may worsen and cause death if not treated early. The BCL anticipates testing by the end of 2022.

Mucopolysaccharidosis type I (MPS-I)

MPS-I is a lysosomal storage disorder that is caused by changes in a single gene. The conditions may worsen and cause death if not treated early. The BCL anticipates testing by the end of 2022.

For additional information please visit https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html and https://www.alabamapublichealth.gov/newbornscreening/index.html.

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