Author

Hadley Stevens Smith

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Review Sep 2026

Evidence Regarding Metachromatic Leukodystrophy Newborn Screening.

Metachromatic leukodystrophy (MLD) is a lysosomal disorder affecting approximately 1 per 100 000 newborns. It is caused by biallelic variations in the arylsulfatase A (ARSA) gene, leading to deficiency of ARSA enzyme activity and elevation of sulfatides. Most affected individuals have the late-infantile or early-juveni...

Wendy K. K. Lam, Margie A. Ream, Scott D. Grosse et al. · Pediatrics · 0 citations

Review Sep 2026

Evidence Regarding Duchenne Muscular Dystrophy Newborn Screening.

Variants in the DMD gene, located on the X chromosome, cause Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). DMD reportedly affects approximately 2 per 10 000 newborn male individuals, leading to progressive weakness and premature death, typically from respiratory or cardiac complications. The av...

Alex R. Kemper, Wendy K. K. Lam, J. Ojodu et al. · Pediatrics · 0 citations