Table 4 Mucopolysaccharidosis newborn screening: major concerns
Enzyme activity | • No correlation genotype/phenotype • False positive in pseudodeficiency • False positive in heterozygosity |
Molecular genetic analysis | • New variants of uncertain pathogenetic effect • Mild phenotypes (medicalizing, anxiety, unneeded treatment, genetic counseling) |
Treatment | • Partial benefit to treatment • Late-onset/asymptomatic form |