Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases

摘要: Leukodystrophies (LD) and lysosomal storage disorders (LSD) have generated increased interest recently as targets for newborn screening programs. Accurate epidemiological benchmarks are needed in the U.S. Age-specific mortality rates were estimated Krabbe disease (KD) nine related disorders. records with E75.2 cause of death code during 1999-2004 collected from 11 open record states. All deaths United States distributed into specific type based on proportions observed these Yearly population sizes obtained CDC averaged. Mortality (per million individuals per year) by age group diseases (for <5 or ≥5 years): Pelizaeus-Merzbacher (0.037/0.033); sudanophilic leukodystrophy (SLD) (0.037/0.004); Canavan (0.037/0.011), Alexander (0.147/0.022); (0.994/0.007); metachromatic (0.331/0.135); Fabry (0.000/0.124); Gaucher (0.221/0.073); Niemann-Pick (NP) (0.442/0.088); multiple sulfatase (0.000/0.004). This is first report LD/LSD Approximated birth prevalence rate early infantile phenotype (onset 0-6 months) was year old one case 244,000 births, which matches 1 250,000 NYS program 2011. It should be noted however that calculation refers only to does not include majority babies identified low GALC two mutations who remained clinically normal. presumed most, if all, will develop later onset forms disease, but this no means certain.